Product Details

SNP ID
rs201895679
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:143977758 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCGCCTTATGGCCATCGGCGTTG[C/G]GGGGCGAGTAGCGGTCCTGCACCGA
Phenotype
MIM: 609564 MIM: 601282
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PARP10 PubMed Links

Gene Details

Gene
PARP10
Gene Name
poly(ADP-ribose) polymerase family member 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317895.1 2916 Missense Mutation CCC,CGC P947R NP_001304824.1
NM_032789.4 2916 Missense Mutation CCC,CGC P935R NP_116178.2
XM_011517336.2 2916 Missense Mutation CCC,CGC P926R XP_011515638.1
Gene
PLEC
Gene Name
plectin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000445.4 2916 Intron NP_000436.2
NM_201378.3 2916 Intron NP_958780.1
NM_201379.2 2916 Intron NP_958781.1
NM_201380.3 2916 Intron NP_958782.1
NM_201381.2 2916 Intron NP_958783.1
NM_201382.3 2916 Intron NP_958784.1
NM_201383.2 2916 Intron NP_958785.1
NM_201384.2 2916 Intron NP_958786.1
XM_005250976.3 2916 Intron XP_005251033.1
XM_005250978.3 2916 Intron XP_005251035.1
XM_005250979.4 2916 Intron XP_005251036.1
XM_005250980.4 2916 Intron XP_005251037.1
XM_005250981.3 2916 Intron XP_005251038.1
XM_005250982.3 2916 Intron XP_005251039.1
XM_005250983.2 2916 Intron XP_005251040.1
XM_005250984.4 2916 Intron XP_005251041.1
XM_006716588.3 2916 Intron XP_006716651.1
XM_006716589.2 2916 Intron XP_006716652.1
XM_006716590.3 2916 Intron XP_006716653.1
XM_011517130.2 2916 Intron XP_011515432.1
XM_011517131.2 2916 Intron XP_011515433.1
XM_011517132.2 2916 Intron XP_011515434.1

View Full Product Details