Product Details

SNP ID
rs200185034
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:32494815 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCGATTCTTGGTGAAGTCGGGCT[C/G]GGGCTGGTTGAGCCGCGTCTCCACG
Phenotype
MIM: 603460 MIM: 606539
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CDK5R1 PubMed Links

Gene Details

Gene
CDK5R1
Gene Name
cyclin dependent kinase 5 regulatory subunit 1
There are no transcripts associated with this gene.

Gene
MYO1D
Gene Name
myosin ID
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303279.1 3266 Intron NP_001290208.1
NM_001303280.1 3266 Intron NP_001290209.1
NM_015194.2 3266 Missense Mutation CAG,GAG Q989E NP_056009.1
XM_017024685.1 3266 Intron XP_016880174.1

View Full Product Details