Product Details

SNP ID
rs139583982
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:63976972 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGCACCCTCAGCGCCACTGTACC[A/G]GTGATGGCATGCTGGGAGAAGGCCT
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
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_080621.4 619 Silent Mutation ACC,ACT T148T NP_542188.1
XM_005260199.4 619 Silent Mutation ACC,ACT T187T XP_005260256.1
XM_006723705.3 619 Silent Mutation ACC,ACT T154T XP_006723768.1
XM_011528565.2 619 Silent Mutation ACC,ACT T352T XP_011526867.1
XM_017027671.1 619 Silent Mutation ACC,ACT T148T XP_016883160.1
Gene
ZNF512B
Gene Name
zinc finger protein 512B
There are no transcripts associated with this gene.

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