Product Details

SNP ID

rs146259491

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:46543169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTCCCGGAGGAGTACGTGCCCAC[C/G]GTCTTCGACCACTACGCAGGTAAGC

Phenotype

MIM: 605857

Polymorphism

C/G, Transversion 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	761	Intron			NP_001304992.1
XM_005264633.2	761	Intron			XP_005264690.1
XM_005264634.2	761	Intron			XP_005264691.1
XM_011533148.2	761	Intron			XP_011531450.1
XM_011533149.2	761	Intron			XP_011531451.1
XM_011533150.2	761	Intron			XP_011531452.1
XM_011533151.2	761	Intron			XP_011531453.1
XM_011533152.2	761	Intron			XP_011531454.1
XM_011533153.2	761	Intron			XP_011531455.1
XM_017005225.1	761	Intron			XP_016860714.1
XM_017005226.1	761	Intron			XP_016860715.1

Gene

RHOQ

Gene Name

ras homolog family member Q

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012249.3	761	Silent Mutation	ACC,ACG	T41T	NP_036381.2
XM_005264229.2	761	Silent Mutation	ACC,ACG	T41T	XP_005264286.1
XM_011532726.2	761	Silent Mutation	ACC,ACG	T41T	XP_011531028.1
XM_011532728.2	761	Missense Mutation	CCG,CGG	P13R	XP_011531030.1
XM_017003716.1	761	Silent Mutation	ACC,ACG	T41T	XP_016859205.1

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