Product Details

SNP ID

rs200003103

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:138709792 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCATAGTCCAGAGCACTTCAGAC[A/C]GTTCTGCAAGGTACGAGAAACCACT

Phenotype

MIM: 605239 MIM: 611700

Polymorphism

A/C, Transversion 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	2499	Missense Mutation	CGG,CTG	R754L	NP_065683.2
NM_130840.2	2499	Missense Mutation	CGG,CTG	R754L	NP_570855.2
NM_130841.2	2499	Missense Mutation	CGG,CTG	R754L	NP_570856.2
XM_005250393.1	2499	Missense Mutation	CGG,CTG	R754L	XP_005250450.1
XM_005250394.3	2499	Missense Mutation	CGG,CTG	R754L	XP_005250451.1

Gene

SVOPL

Gene Name

SVOP like

There are no transcripts associated with this gene.

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