Gene Report

Basic information

Functional annotation

Related other genetic factors

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Basic Info

Approved Symbol	EFCAB5
Symbol Alias	FLJ46247
Approved Name	EF-hand calcium binding domain 5
Location	17q11.2
Position	chr17:29929200-30108452, 1
External Links	HGNC: 24801 Entrez Gene: 374786 Ensembl: ENSG00000176927 UCSC: uc002het.3
No. of Studies	0. Gene is from "Mapped by Literature SNP "

Gene functional annotation

Gene related GO terms (count: 0)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 68)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4567782	chr17:29941782 - 29941782(1)	5_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs4436830	chr17:30056691 - 30056691(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 66)

rs_ID	Location	Functional Annotation
rs9900974	chr17:30037438 - 30037438(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4575590	chr17:30034951 - 30034951(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs8071742	chr17:30034651 - 30034651(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs9912741	chr17:30032493 - 30032493(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs9904336	chr17:30030062 - 30030062(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs9896062	chr17:30030029 - 30030029(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs7225686	chr17:30029726 - 30029726(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs4528633	chr17:30029118 - 30029118(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs9902453	chr17:30022077 - 30022077(1)	intron_variant; NMD_transcript_variant
rs4328498	chr17:30017258 - 30017258(1)	intron_variant; NMD_transcript_variant
rs7217638	chr17:30009754 - 30009754(1)	intron_variant; NMD_transcript_variant
rs7212497	chr17:30008931 - 30008931(1)	intron_variant; NMD_transcript_variant
rs7220151	chr17:30007692 - 30007692(1)	intron_variant; NMD_transcript_variant
rs7223786	chr17:30005089 - 30005089(1)	intron_variant; NMD_transcript_variant
rs9900911	chr17:30003262 - 30003262(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs12939344	chr17:30001801 - 30001801(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs7217961	chr17:30076094 - 30076094(1)	downstream_gene_variant; intron_variant
rs6505158	chr17:30076330 - 30076330(1)	downstream_gene_variant; intron_variant
rs7213517	chr17:30074722 - 30074722(1)	downstream_gene_variant; intron_variant
rs7218379	chr17:30075719 - 30075719(1)	downstream_gene_variant; intron_variant
rs9906340	chr17:30071959 - 30071959(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs7207021	chr17:30073498 - 30073498(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs9890886	chr17:30064058 - 30064058(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs4465650	chr17:30069703 - 30069703(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs4075623	chr17:30059508 - 30059508(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs4239227	chr17:30062085 - 30062085(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs4074170	chr17:30054123 - 30054123(1)	3_prime_UTR_variant; downstream_gene_variant; NMD_transcript_variant; synonymous_variant; upstream_gene_variant
rs9890205	chr17:30055686 - 30055686(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs7219456	chr17:30047094 - 30047094(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11653805	chr17:30051258 - 30051258(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs4547389	chr17:30037750 - 30037750(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7220004	chr17:30042530 - 30042530(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4077465	chr17:29973126 - 29973126(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4075014	chr17:29978656 - 29978656(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12150261	chr17:29993455 - 29993455(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7225462	chr17:29994208 - 29994208(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12600855	chr17:29952573 - 29952573(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs6505148	chr17:29962800 - 29962800(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4598962	chr17:29966930 - 29966930(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs9897794	chr17:29969309 - 29969309(1)	downstream_gene_variant; intron_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant
rs9894893	chr17:29943332 - 29943332(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs9909093	chr17:29944189 - 29944189(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7222308	chr17:29950023 - 29950023(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4533340	chr17:29950933 - 29950933(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7209622	chr17:29929789 - 29929789(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs3936006	chr17:29930642 - 29930642(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs9905638	chr17:29934004 - 29934004(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs11868086	chr17:30000564 - 30000564(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs34625018	chr17:29956284 - 29956284(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs8065261	chr17:30091023 - 30091023(1)	intron_variant; non_coding_transcript_variant
rs8065059	chr17:30090358 - 30090358(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs4350617	chr17:30096070 - 30096070(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7213076	chr17:30092410 - 30092410(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs8082175	chr17:30103285 - 30103285(1)	intron_variant; non_coding_transcript_variant
rs4581755	chr17:30100880 - 30100880(1)	intron_variant; non_coding_transcript_variant
rs4294864	chr17:30113120 - 30113120(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs9905950	chr17:30104180 - 30104180(1)	intron_variant; non_coding_transcript_variant
rs11080114	chr17:30080269 - 30080269(1)	intron_variant
rs10853136	chr17:30079000 - 30079000(1)	downstream_gene_variant; intron_variant
rs11080115	chr17:30081052 - 30081052(1)	intron_variant
rs7221743	chr17:30080858 - 30080858(1)	intron_variant; synonymous_variant
rs7212292	chr17:30082246 - 30082246(1)	intron_variant; upstream_gene_variant
rs12103671	chr17:30081199 - 30081199(1)	intron_variant
rs12948898	chr17:30083306 - 30083306(1)	intron_variant; upstream_gene_variant
rs12941382	chr17:30083106 - 30083106(1)	intron_variant; upstream_gene_variant
rs34585141	chr17:30009414 - 30009414(1)	intron_variant; NMD_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 0)

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Region: chr17:29929200..30108452 View in gBrowse