Product Details

SNP ID
rs1140226
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:55262426 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGATGAGAGTGAGAGCATGGGAGG[G/T]GGGGTCCAAGGAGCTGGTGCCTTTC
Phenotype
MIM: 612939 MIM: 610875
Polymorphism
G/T, Transversion 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 1705 UTR 3 NP_001123578.1
NM_001297600.1 1705 UTR 3 NP_001284529.1
NM_012267.4 1705 UTR 3 NP_036399.3
XM_005258700.2 1705 Missense Mutation ACC,CCC T414P XP_005258757.1
XM_005258701.2 1705 Missense Mutation ACC,CCC T414P XP_005258758.1
XM_011526691.1 1705 Missense Mutation ACC,CCC T414P XP_011524993.1
XM_017026543.1 1705 Missense Mutation ACC,CCC T414P XP_016882032.1
XM_017026544.1 1705 UTR 3 XP_016882033.1
XM_017026545.1 1705 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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