Product Details

SNP ID

rs200881150

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:123771606 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTGATTGCTGTTTTGCAGCTAAG[C/T]GTGTGTCACTGAGAACCGAATCTCT

Phenotype

MIM: 611716 MIM: 605884

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP6V0A2 PubMed Links

Gene Details

Gene

ATP6V0A2

Gene Name

ATPase H+ transporting V0 subunit a2

There are no transcripts associated with this gene.

Gene

DNAH10

Gene Name

dynein axonemal heavy chain 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207437.3	638	Missense Mutation	CGT,TGT	R41C	NP_997320.2
XM_005253555.3	638	Missense Mutation	CGT,TGT	R102C	XP_005253612.1
XM_011538014.2	638	Missense Mutation	CGT,TGT	R102C	XP_011536316.1
XM_011538015.2	638	Missense Mutation	CGT,TGT	R102C	XP_011536317.1
XM_011538016.2	638	Missense Mutation	CGT,TGT	R102C	XP_011536318.1
XM_011538017.2	638	Missense Mutation	CGT,TGT	R102C	XP_011536319.1
XM_011538019.2	638	Intron			XP_011536321.1
XM_011538020.2	638	Missense Mutation	CGT,TGT	R102C	XP_011536322.1
XM_017018960.1	638	Missense Mutation	CGT,TGT	R102C	XP_016874449.1
XM_017018961.1	638	Missense Mutation	CGT,TGT	R102C	XP_016874450.1
XM_017018962.1	638	Intron			XP_016874451.1

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