Product Details

SNP ID
rs201493632
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:4345842 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACCCAGCGCCTGGGCCACCCACT[G/T]CAAGAAGCTGGTGAACCCTGCCAAG
Phenotype
MIM: 607881
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MPND PubMed Links

Gene Details

Gene
MPND
Gene Name
MPN domain containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001159846.2 459 Missense Mutation TGC,TTC C131F NP_001153318.1
NM_001300862.1 459 Missense Mutation TGC,TTC C131F NP_001287791.1
NM_032868.5 459 Missense Mutation TGC,TTC C131F NP_116257.2
XM_006722926.2 459 Missense Mutation TGC,TTC C131F XP_006722989.1
Gene
STAP2
Gene Name
signal transducing adaptor family member 2
There are no transcripts associated with this gene.

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