Product Details

SNP ID

rs34965400

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:70936147 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGGCTGCCAGGTTCCCGGGCCCC[A/G]CTTCTTGCCTCAGAAAAGGAGGAGG

Phenotype

MIM: 192132 MIM: 604295

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP6V1B1 PubMed Links

Gene Details

Gene

ATP6V1B1

Gene Name

ATPase H+ transporting V1 subunit B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001692.3		Intron			NP_001683.2
XM_011532907.2		Intron			XP_011531209.1

Gene

ATP6V1B1-AS1

Gene Name

ATP6V1B1 antisense RNA 1

There are no transcripts associated with this gene.

Gene

VAX2

Gene Name

ventral anterior homeobox 2

There are no transcripts associated with this gene.

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