Product Details

SNP ID
rs374231666
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:70639264 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAAATTCATACTGCTCACTGGTTT[G/A]CACCATTCCACCTCTGCAAGGAAGA
Phenotype
MIM: 176882 MIM: 602853
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
PTPRB PubMed Links

Gene Details

Gene
PTPRB
Gene Name
protein tyrosine phosphatase, receptor type B
There are no transcripts associated with this gene.

Gene
PTPRR
Gene Name
protein tyrosine phosphatase, receptor type R
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001207015.1 1904 Nonsense Mutation CAA,TAA Q520* NP_001193944.1
NM_001207016.1 1904 Nonsense Mutation CAA,TAA Q426* NP_001193945.1
NM_002849.3 1904 Nonsense Mutation CAA,TAA Q632* NP_002840.2
NM_130846.2 1904 Nonsense Mutation CAA,TAA Q387* NP_570897.2
XM_011538615.2 1904 Nonsense Mutation CAA,TAA Q624* XP_011536917.1

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