Product Details

SNP ID

rs140467279

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:2864554 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGCCTGTGGCCCCAGTTCTGTA[A/T]GCATCAGGAGCTAGAGACGCTGAAG

Phenotype

MIM: 176884 MIM: 608550

Polymorphism

A/T, 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	199	UTR 5			NP_002827.1
NM_080840.2	199	Intron			NP_543030.1
NM_080841.2	199	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	199	Missense Mutation	AAG,ATG	K609M	NP_072097.2
NM_080413.2	199	Missense Mutation	AAG,ATG	K465M	NP_536338.1

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