Product Details

SNP ID
rs144027852
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:63977053 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTCTTGAGCCACTTGCAGACGTC[C/T]TGCTGACTCCACAGGACCACGGGCC
Phenotype
MIM: 613979
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PRPF6 PubMed Links

Gene Details

Gene
PRPF6
Gene Name
pre-mRNA processing factor 6
There are no transcripts associated with this gene.

Gene
SAMD10
Gene Name
sterile alpha motif domain containing 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080621.4 538 Silent Mutation CAA,CAG Q121Q NP_542188.1
XM_005260199.4 538 Silent Mutation CAA,CAG Q160Q XP_005260256.1
XM_006723705.3 538 Silent Mutation CAA,CAG Q127Q XP_006723768.1
XM_011528565.2 538 Silent Mutation CAA,CAG Q325Q XP_011526867.1
XM_017027671.1 538 Silent Mutation CAA,CAG Q121Q XP_016883160.1
Gene
ZNF512B
Gene Name
zinc finger protein 512B
There are no transcripts associated with this gene.

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