Product Details

SNP ID
rs147964932
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:33410284 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCGTGCGCAGGGCAAAAGAGAGC[G/T]CTGCATCGTAGGGCACTGAGCCCTT
Phenotype
MIM: 608200 MIM: 601017
Polymorphism
G/T, Transversion 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 1321 Missense Mutation GAG,GCG E363A NP_003089.1
XM_005260517.1 1321 Missense Mutation GAG,GCG E363A XP_005260574.1
XM_011529007.1 1321 Missense Mutation GAG,GCG E363A XP_011527309.1
XM_011529008.1 1321 Missense Mutation GAG,GCG E363A XP_011527310.1

View Full Product Details