Product Details

SNP ID

rs200373117

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:113650453 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAAGTAGTGCAGACTGAAGGTGC[C/T]GTTGGGAGGGTAGTACTTGACCTGC

Phenotype

MIM: 137217 MIM: 180381 MIM: 189902

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP4B PubMed Links

Gene Details

Gene

ATP4B

Gene Name

ATPase H+/K+ transporting beta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000705.3	721	Missense Mutation	AGC,GGC	S223G	NP_000696.1

Gene

GRK1

Gene Name

G protein-coupled receptor kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002929.2	721	Intron			NP_002920.1
XM_017020684.1	721	Intron			XP_016876173.1

Gene

TFDP1

Gene Name

transcription factor Dp-1

There are no transcripts associated with this gene.

View Full Product Details