Product Details

SNP ID
rs199800583
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:76995595 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGATGATGCCCCAGCTGCAGTTC[A/G]AAGATGCCTTTTGGGTGAGTGAGGA
Phenotype
MIM: 606347
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PSTPIP1 PubMed Links

Gene Details

Gene
PSTPIP1
Gene Name
proline-serine-threonine phosphatase interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321135.1 472 Missense Mutation AAA,GAA K8E NP_001308064.1
NM_001321136.1 472 UTR 5 NP_001308065.1
NM_001321137.1 472 Missense Mutation AAA,GAA K73E NP_001308066.1
NM_003978.4 472 Missense Mutation AAA,GAA K8E NP_003969.2
XM_006720737.2 472 UTR 5 XP_006720800.1
XM_011522163.1 472 Missense Mutation AAA,GAA K8E XP_011520465.1
XM_011522164.1 472 Intron XP_011520466.1
XM_011522165.2 472 Intron XP_011520467.1
XM_011522166.1 472 Missense Mutation AAA,GAA K8E XP_011520468.1
XM_011522167.1 472 Missense Mutation AAA,GAA K8E XP_011520469.1
XM_011522168.2 472 Missense Mutation AAA,GAA K8E XP_011520470.1
XM_011522169.1 472 Missense Mutation AAA,GAA K8E XP_011520471.1

View Full Product Details