Product Details

SNP ID

rs201877094

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:57648601 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGAGATGAGGTCCGCGTAGCCCC[A/G]CTGGTGCGAGAAGGCGTAGGCCGAG

Phenotype

MIM: 602397

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP8B1 PubMed Links

Gene Details

Gene

ATP8B1

Gene Name

ATPase phospholipid transporting 8B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005603.4	3687	Missense Mutation	CGG,TGG	R1215W	NP_005594.1
XM_006722481.3	3687	Missense Mutation	CGG,TGG	R1215W	XP_006722544.1
XM_011526022.2	3687	Missense Mutation	CGG,TGG	R1215W	XP_011524324.1
XM_011526023.2	3687	Missense Mutation	CGG,TGG	R1177W	XP_011524325.1

Gene

LOC100505549

Gene Name

uncharacterized LOC100505549

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242804.1	3687	Intron			NP_001229733.1

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