Product Details

SNP ID

rs75431559

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:138797825 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCTCCCCTTGTTTCTCAATAAGG[A/G]CAATATTTGCGCTCAGGGGAGAAGG

Phenotype

MIM: 605239

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP6V0A4 PubMed Links

Gene Details

Gene

ATP6V0A4

Gene Name

ATPase H+ transporting V0 subunit a4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020632.2	339	Intron			NP_065683.2
NM_130840.2	339	Intron			NP_570855.2
NM_130841.2	339	Intron			NP_570856.2
XM_005250393.1	339	Intron			XP_005250450.1
XM_005250394.3	339	Intron			XP_005250451.1

Gene

TMEM213

Gene Name

transmembrane protein 213

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001085429.1	339	Intron			NP_001078898.1
XM_005250167.3	339	UTR 5			XP_005250224.1

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