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SNP ID

rs12828408

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:123714171 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCACACTTCAGTCTTACAGGTTT[C/G]AGCAAACGTACTAATCACTATGAAG

Phenotype

MIM: 611716 MIM: 613846

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ATP6V0A2 PubMed Links

Gene Details

Gene

ATP6V0A2

Gene Name

ATPase H+ transporting V0 subunit a2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012463.3		Intron			NP_036595.2

Gene

TCTN2

Gene Name

tectonic family member 2

There are no transcripts associated with this gene.

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