Product Details

SNP ID

rs73892692

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:2865137 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCATCCCCATCATGCCTCATTATC[C/T]GGGTCCCCAGGCTACAGAGGATCAA

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		Intron			NP_002827.1
NM_080840.2		Intron			NP_543030.1
NM_080841.2		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		Intron			NP_072097.2
NM_080413.2		Intron			NP_536338.1

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