Product Details

SNP ID

rs132630277

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154420037 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTACCTCCCCCCTGGGCAGGAATC[A/G]GGCGCCTGATTGCTGAGTGTCATCT

Phenotype

MIM: 300197 MIM: 300081 MIM: 300394

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP6AP1 PubMed Links

Gene Details

Gene

ATP6AP1

Gene Name

ATPase H+ transporting accessory protein 1

There are no transcripts associated with this gene.

Gene

CH17-340M24.3

Gene Name

uncharacterized protein BC009467

There are no transcripts associated with this gene.

Gene

DNASE1L1

Gene Name

deoxyribonuclease I-like 1

There are no transcripts associated with this gene.

Gene

TAZ

Gene Name

tafazzin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000116.4	444	Missense Mutation	AGG,GGG	R197G	NP_000107.1
NM_001303465.1	444	Missense Mutation	AGG,GGG	R201G	NP_001290394.1
NM_181311.3	444	Missense Mutation	AGG,GGG	R167G	NP_851828.1
NM_181312.3	444	Missense Mutation	AGG,GGG	R183G	NP_851829.1
NM_181313.3	444	Missense Mutation	AGG,GGG	R153G	NP_851830.1
XM_006724836.1	444	Missense Mutation	AGG,GGG	R215G	XP_006724899.1
XM_006724837.1	444	Missense Mutation	AGG,GGG	R171G	XP_006724900.1
XM_006724839.1	444	Missense Mutation	AGG,GGG	R171G	XP_006724902.1
XM_006724841.3	444	Missense Mutation	AGG,GGG	R128G	XP_006724904.1
XM_006724842.3	444	Missense Mutation	AGG,GGG	R98G	XP_006724905.1
XM_011531189.1	444	Missense Mutation	AGG,GGG	R144G	XP_011529491.1
XM_011531191.2	444	Missense Mutation	AGG,GGG	R105G	XP_011529493.1
XM_017029761.1	444	Missense Mutation	AGG,GGG	R153G	XP_016885250.1
XM_017029762.1	444	Missense Mutation	AGG,GGG	R185G	XP_016885251.1
XM_017029763.1	444	Missense Mutation	AGG,GGG	R126G	XP_016885252.1
XM_017029764.1	444	Missense Mutation	AGG,GGG	R104G	XP_016885253.1
XM_017029765.1	444	Missense Mutation	AGG,GGG	R84G	XP_016885254.1

View Full Product Details