Product Details

SNP ID

rs141587971

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:102654650 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTCCCAAACTAACCAGGAGCTCT[A/G]TATTGCATCTAGTTCTGGTTCTGAG

Phenotype

MIM: 300417

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARMCX5-GPRASP2 PubMed Links

Gene Details

Gene

ARMCX5-GPRASP2

Gene Name

ARMCX5-GPRASP2 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199818.1	1462	Intron			NP_001186747.1

Gene

GPRASP1

Gene Name

G protein-coupled receptor associated sorting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099410.1	1462	Missense Mutation	TAT,TGT	Y246C	NP_001092880.1
NM_001099411.1	1462	Missense Mutation	TAT,TGT	Y246C	NP_001092881.1
NM_001184727.1	1462	Missense Mutation	TAT,TGT	Y246C	NP_001171656.1
NM_014710.4	1462	Missense Mutation	TAT,TGT	Y246C	NP_055525.3
XM_017029981.1	1462	Missense Mutation	TAT,TGT	Y246C	XP_016885470.1
XM_017029982.1	1462	Missense Mutation	TAT,TGT	Y246C	XP_016885471.1

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