Product Details

SNP ID

rs11539435

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:2865301 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGAGCAGCTGGCACGTGACTTC[C/T]GCATCCCTGACAAGAGGTAGGTGAG

Phenotype

MIM: 176884 MIM: 608550

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PTPRA PubMed Links

Gene Details

Gene

PTPRA

Gene Name

protein tyrosine phosphatase, receptor type A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002836.3	531	UTR 5			NP_002827.1
NM_080840.2	531	Intron			NP_543030.1
NM_080841.2	531	Intron			NP_543031.1

Gene

VPS16

Gene Name

VPS16, CORVET/HOPS core subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022575.3	531	Missense Mutation	CGC,TGC	R720C	NP_072097.2
NM_080413.2	531	Missense Mutation	CGC,TGC	R576C	NP_536338.1

View Full Product Details