Product Details

SNP ID
rs138065412
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:122740480 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGTATTTGAGGCAATCTGTTCCTC[A/G]ATTGCATTTTCACTGTTGCTCATTA
Phenotype
MIM: 608263 MIM: 610028
Polymorphism
A/G, Transition 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_001320728.1 933 Silent Mutation ATC,ATT I416I NP_001307657.1
NM_024610.5 933 Silent Mutation ATC,ATT I444I NP_078886.2
XM_005247762.2 933 Intron XP_005247819.1
XM_011513130.2 933 Silent Mutation ATC,ATT I407I XP_011511432.1
XM_011513132.2 933 Silent Mutation ATC,ATT I405I XP_011511434.2
XM_017007179.1 933 Silent Mutation ATC,ATT I382I XP_016862668.1
XM_017007180.1 933 Silent Mutation ATC,ATT I209I XP_016862669.1
Gene
PARP14
Gene Name
poly(ADP-ribose) polymerase family member 14
There are no transcripts associated with this gene.

View Full Product Details