Product Details

SNP ID
rs147806061
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:55262629 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTTTCACCGATCCATGCTGTCGTC[C/T]GCTGGGCTGGAGAAACAGGTCTGTA
Phenotype
MIM: 612939 MIM: 610875
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HSPBP1 PubMed Links

Gene Details

Gene
HSPBP1
Gene Name
HSPA (Hsp70) binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130106.1 1502 Silent Mutation GCA,GCG A353A NP_001123578.1
NM_001297600.1 1502 Silent Mutation GCA,GCG A399A NP_001284529.1
NM_012267.4 1502 Silent Mutation GCA,GCG A353A NP_036399.3
XM_005258700.2 1502 Missense Mutation CAG,CGG Q346R XP_005258757.1
XM_005258701.2 1502 Missense Mutation CAG,CGG Q346R XP_005258758.1
XM_011526691.1 1502 Missense Mutation CAG,CGG Q346R XP_011524993.1
XM_017026543.1 1502 Missense Mutation CAG,CGG Q346R XP_016882032.1
XM_017026544.1 1502 Silent Mutation GCA,GCG A353A XP_016882033.1
XM_017026545.1 1502 UTR 3 XP_016882034.1
Gene
PPP6R1
Gene Name
protein phosphatase 6 regulatory subunit 1
There are no transcripts associated with this gene.

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