Product Details

SNP ID

rs1296819

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:17593780 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGGTTGGCAGCCACAGCAATAGACT[A/C]CCACTAGAAGTCTAGAAGATGCCCA

Phenotype

MIM: 108746 MIM: 609303

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATP6V1E1 PubMed Links

Gene Details

Gene

ATP6V1E1

Gene Name

ATPase H+ transporting V1 subunit E1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039366.1		Intron			NP_001034455.1
NM_001039367.1		Intron			NP_001034456.1
NM_001696.3		Intron			NP_001687.1

Gene

LOC101929372

Gene Name

uncharacterized LOC101929372

There are no transcripts associated with this gene.

Gene

SLC25A18

Gene Name

solute carrier family 25 member 18

There are no transcripts associated with this gene.

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