chr8:118184784:G>T Detail (hg19) (SLC30A8)

Information

Genome

Assembly Position
hg19 chr8:118,184,784-118,184,784
hg38 chr8:117,172,545-117,172,545 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001172813.1:c.827G>T NP_001166284.1:p.Arg276Leu
NM_001172815.2:c.827G>T NP_001166286.1:p.Arg276Leu
NM_173851.2:c.974G>T NP_776250.2:p.Arg325Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 611145 OMIM
HGNC 20303 HGNC
Ensembl ENSG00000164756 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.340 Diabetes Mellitus, Non-Insulin-Dependent Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with typ... BeFree 20809084 Detail
Annotation

Annotations

DescrptionSourceLinks
Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with type 2 diabetes mellitu... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs16889462 dbSNP
Genome
hg19
Position
chr8:118,184,784-118,184,784
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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