Product Details

SNP ID

rs17720303

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:70936043 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCCCGAGAACACATGCAGGCGGTCA[C/T]CCGAAACTACATCACCCACCCCCGT

Phenotype

MIM: 192132 MIM: 604295

Polymorphism

C/T, 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	176	Missense Mutation	ACC,ATC	T30I	NP_001683.2
XM_011532907.2	176	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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