Product Details

SNP ID

rs202032042

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:2865415 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTGCAGGCTCTGGTGGCTGAAG[A/C]TGACTGCCCTGGCAGATTTGGAAGA

Phenotype

MIM: 176884 MIM: 608550

Polymorphism

A/C, Transversion 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	2269	Intron			NP_002827.1
NM_080840.2	2269	Intron			NP_543030.1
NM_080841.2	2269	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	2269	Missense Mutation	ATG,CTG	M731L	NP_072097.2
NM_080413.2	2269	Missense Mutation	ATG,CTG	M587L	NP_536338.1

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