Product Details

SNP ID

rs142788403

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:20197422 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAGACAAGATGGCGCTGCGGGCG[A/G]TGCGGGGGATTGTCAACGGGGCCGC

Phenotype

MIM: 606939

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP6V1B2 PubMed Links

Gene Details

Gene

ATP6V1B2

Gene Name

ATPase H+ transporting V1 subunit B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001693.3	230	Missense Mutation	ATG,GTG	M6V	NP_001684.2

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