Product Details

SNP ID

rs147855126

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:46512350 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCAGCAGTCGGAGCAGACCCTGG[A/G]GCACCAGTTTATCCAGCAGCCCCTG

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP6V1E2 PubMed Links

Gene Details

Gene

ATP6V1E2

Gene Name

ATPase H+ transporting V1 subunit E2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318063.1	1807	Missense Mutation	CCC,CTC	P121L	NP_001304992.1
XM_005264633.2	1807	Missense Mutation	CCC,CTC	P121L	XP_005264690.1
XM_005264634.2	1807	Missense Mutation	CCC,CTC	P121L	XP_005264691.1
XM_011533148.2	1807	Missense Mutation	CCC,CTC	P121L	XP_011531450.1
XM_011533149.2	1807	Missense Mutation	CCC,CTC	P121L	XP_011531451.1
XM_011533150.2	1807	Missense Mutation	CCC,CTC	P121L	XP_011531452.1
XM_011533151.2	1807	Missense Mutation	CCC,CTC	P121L	XP_011531453.1
XM_011533152.2	1807	Missense Mutation	CCC,CTC	P121L	XP_011531454.1
XM_011533153.2	1807	Missense Mutation	CCC,CTC	P121L	XP_011531455.1
XM_017005225.1	1807	Missense Mutation	CCC,CTC	P121L	XP_016860714.1
XM_017005226.1	1807	Missense Mutation	CCC,CTC	P121L	XP_016860715.1

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