Product Details

SNP ID
rs150906823
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:122740768 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTTTCATGTGCTCTCCATCTGT[A/T]CTCAGTGCTTGGATTTCTACTACCT
Phenotype
MIM: 608263 MIM: 610028
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
HSPBAP1 PubMed Links

Gene Details

Gene
HSPBAP1
Gene Name
HSPB1 associated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320728.1 645 Missense Mutation AGA,AGT R320S NP_001307657.1
NM_024610.5 645 Missense Mutation AGA,AGT R348S NP_078886.2
XM_005247762.2 645 Intron XP_005247819.1
XM_011513130.2 645 Missense Mutation AGA,AGT R311S XP_011511432.1
XM_011513132.2 645 Missense Mutation AGA,AGT R309S XP_011511434.2
XM_017007179.1 645 Missense Mutation AGA,AGT R286S XP_016862668.1
XM_017007180.1 645 Missense Mutation AGA,AGT R113S XP_016862669.1
Gene
PARP14
Gene Name
poly(ADP-ribose) polymerase family member 14
There are no transcripts associated with this gene.

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