Product Details

SNP ID

rs139153471

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:113650454 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGTAGTGCAGACTGAAGGTGCC[A/G]TTGGGAGGGTAGTACTTGACCTGCA

Phenotype

MIM: 137217 MIM: 180381 MIM: 189902

Polymorphism

A/G, 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	720	Silent Mutation	AAC,AAT	N222N	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	720	Intron			NP_002920.1
XM_017020684.1	720	Intron			XP_016876173.1

Gene

TFDP1

Gene Name

transcription factor Dp-1

There are no transcripts associated with this gene.

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