Product Details

SNP ID
rs200594401
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:47161740 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATTTACCTTCATAGTTTACTTGA[A/C]CATCACCATCAATATCTGCTTCCCT
Phenotype
MIM: 114182
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
C2orf61 PubMed Links

Gene Details

Gene
C2orf61
Gene Name
chromosome 2 open reading frame 61
There are no transcripts associated with this gene.

Gene
CALM2
Gene Name
calmodulin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001305624.1 630 Missense Mutation GGT,GTT G183V NP_001292553.1
NM_001305625.1 630 Missense Mutation GGT,GTT G99V NP_001292554.1
NM_001305626.1 630 Missense Mutation GGT,GTT G99V NP_001292555.1
NM_001743.5 630 Missense Mutation GGT,GTT G135V NP_001734.1

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