Product Details

SNP ID
rs116747979
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:33408776 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCTGAAGACATCTGCAGCTTCTC[A/G]AAGGGCTGTCGCAGGAGCACAGCTC
Phenotype
MIM: 608200 MIM: 601017
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CDK5RAP1 PubMed Links

Gene Details

Gene
CDK5RAP1
Gene Name
CDK5 regulatory subunit associated protein 1
There are no transcripts associated with this gene.

Gene
SNTA1
Gene Name
syntrophin alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003098.2 1615 Silent Mutation TTC,TTT F450F NP_003089.1
XM_005260517.1 1615 Silent Mutation TTC,TTT F450F XP_005260574.1
XM_011529007.1 1615 Missense Mutation TCG,TTG S461L XP_011527309.1
XM_011529008.1 1615 Missense Mutation TCG,TTG S461L XP_011527310.1

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