Product Details

SNP ID

rs116586018

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1783215 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCACGAGACTCCCGGTGTACATGA[A/G]GCAAGGGCTCCATGGTGAAAATCTC

Phenotype

MIM: 605866 MIM: 611294

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP8B3 PubMed Links

Gene Details

Gene

ATP8B3

Gene Name

ATPase phospholipid transporting 8B3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001178002.2	3772	Missense Mutation	CCT,CTT	P1202L	NP_001171473.1
NM_138813.3	3772	Missense Mutation	CCT,CTT	P1239L	NP_620168.1
XM_006722654.2	3772	Missense Mutation	CCT,CTT	P1249L	XP_006722717.1
XM_006722655.2	3772	Missense Mutation	CCT,CTT	P1249L	XP_006722718.1
XM_006722656.2	3772	Missense Mutation	CCT,CTT	P1163L	XP_006722719.1
XM_011527707.1	3772	Missense Mutation	CCT,CTT	P1240L	XP_011526009.1
XM_011527708.1	3772	Missense Mutation	CCT,CTT	P1209L	XP_011526010.1
XM_011527709.1	3772	Missense Mutation	CCT,CTT	P1178L	XP_011526011.1
XM_011527710.2	3772	Missense Mutation	CCT,CTT	P997L	XP_011526012.1
XM_011527711.2	3772	Intron			XP_011526013.1
XM_011527712.1	3772	Missense Mutation	CCT,CTT	P629L	XP_011526014.1

Gene

ONECUT3

Gene Name

one cut homeobox 3

There are no transcripts associated with this gene.

View Full Product Details