Product Details

SNP ID

rs139569194

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:53725529 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCAGCAGTCTTGACTCAATTTCCA[A/C]CTGACAGCTAATCTGTCATCTAGGA

Phenotype

MIM: 608861

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATP6V1H PubMed Links

Gene Details

Gene

ATP6V1H

Gene Name

ATPase H+ transporting V1 subunit H

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015941.3		Intron			NP_057025.2
NM_213619.2		Intron			NP_998784.1
NM_213620.2		Intron			NP_998785.1
XM_006716455.2		Intron			XP_006716518.1
XM_011517542.1		Intron			XP_011515844.1

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