Product Details

SNP ID
rs115265032
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:63981127 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCTGCTTCCGGGGCGCGGGTGAC[A/G]CGACGACGGCGACACTTTGCTACGG
Phenotype
MIM: 613979
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PRPF6 PubMed Links

Gene Details

Gene
PRPF6
Gene Name
pre-mRNA processing factor 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012469.3 50 UTR 5 NP_036601.2
XM_006723769.2 50 UTR 5 XP_006723832.1
Gene
SAMD10
Gene Name
sterile alpha motif domain containing 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080621.4 50 Intron NP_542188.1
XM_005260199.4 50 Intron XP_005260256.1
XM_006723705.3 50 Intron XP_006723768.1
XM_011528565.2 50 Intron XP_011526867.1
XM_017027671.1 50 Intron XP_016883160.1

View Full Product Details