chr18:45644040:C>T Detail (hg38) (SLC14A2)

Information

Genome

Assembly Position
hg19 chr18:43,224,005-43,224,005 View the variant detail on this assembly version.
hg38 chr18:45,644,040-45,644,040

HGVS

Type Transcript Protein
RefSeq NM_007163.3:c.1231C>T NP_009094.3:p.Leu411Phe
NM_001242692.1:c.1231C>T NP_001229621.1:p.Leu411Phe
Ensemble ENST00000255226.11:c.1231C>T ENST00000255226.11:p.Leu411Phe
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 601611 OMIM
HGNC 10919 HGNC
Ensembl ENSG00000132874 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
<0.001 Non-small cell lung carcinoma Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... BeFree 21412764 Detail
<0.001 Non-small cell lung carcinoma Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... BeFree 21412764 Detail
<0.001 Non-small cell lung carcinoma Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... BeFree 21412764 Detail
Annotation

Annotations

DescrptionSourceLinks
Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... DisGeNET Detail
Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... DisGeNET Detail
Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... 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
rs139770269 dbSNP
Genome
hg38
Position
chr18:45,644,040-45,644,040
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser