Product Details

SNP ID
rs147038092
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:63976993 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACCGGTGATGGCATGCTGGGAGAA[G/T]GCCTCCACGTAGACGAGGTAGTTGT
Phenotype
MIM: 613979
Polymorphism
G/T, Transversion 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_080621.4 598 Silent Mutation GCA,GCC A141A NP_542188.1
XM_005260199.4 598 Silent Mutation GCA,GCC A180A XP_005260256.1
XM_006723705.3 598 Silent Mutation GCA,GCC A147A XP_006723768.1
XM_011528565.2 598 Silent Mutation GCA,GCC A345A XP_011526867.1
XM_017027671.1 598 Silent Mutation GCA,GCC A141A XP_016883160.1
Gene
ZNF512B
Gene Name
zinc finger protein 512B
There are no transcripts associated with this gene.

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