Product Details

SNP ID
rs200666329
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41573691 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCAGCTGGCCCCGTGTTCAAGGG[C/T]GTCTGTAAGCAGTTCTCACGCTCAC
Phenotype
MIM: 601786
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CSDC2 PubMed Links

Gene Details

Gene
CSDC2
Gene Name
cold shock domain containing C2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014460.3 510 Silent Mutation GGC,GGT G71G NP_055275.1
Gene
PMM1
Gene Name
phosphomannomutase 1
There are no transcripts associated with this gene.

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