Product Details

SNP ID

rs149272124

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:123767687 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGTGGAGTCCGTGGATAAAGTGC[A/G]AGGTGTGGAGTTGGGAGGGGTCATG

Phenotype

MIM: 611716 MIM: 605884

Polymorphism

A/G, 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	630	Missense Mutation	CAA,CGA	Q38R	NP_997320.2
XM_005253555.3	630	Missense Mutation	CAA,CGA	Q99R	XP_005253612.1
XM_011538014.2	630	Missense Mutation	CAA,CGA	Q99R	XP_011536316.1
XM_011538015.2	630	Missense Mutation	CAA,CGA	Q99R	XP_011536317.1
XM_011538016.2	630	Missense Mutation	CAA,CGA	Q99R	XP_011536318.1
XM_011538017.2	630	Missense Mutation	CAA,CGA	Q99R	XP_011536319.1
XM_011538019.2	630	Intron			XP_011536321.1
XM_011538020.2	630	Missense Mutation	CAA,CGA	Q99R	XP_011536322.1
XM_017018960.1	630	Missense Mutation	CAA,CGA	Q99R	XP_016874449.1
XM_017018961.1	630	Missense Mutation	CAA,CGA	Q99R	XP_016874450.1
XM_017018962.1	630	Intron			XP_016874451.1

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