Product Details

SNP ID
rs200043001
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:2864201 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCTGCTGGAGTATGAGCCACGCT[C/T]AGGGGAGCAGGTACCCCTTCTCCTA
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 7 UTR 5 NP_002827.1
NM_080840.2 7 Intron NP_543030.1
NM_080841.2 7 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 7 Missense Mutation TCA,TTA S545L NP_072097.2
NM_080413.2 7 Missense Mutation TCA,TTA S401L NP_536338.1

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