Product Details

SNP ID
rs141237478
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:94897863 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTATCACTGATTTCCGAACCATTT[C/G]TTCCTGTTCCTTGGCTTCCGTTGTG
Phenotype
MIM: 602374
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CNN3 PubMed Links

Gene Details

Gene
CNN3
Gene Name
calponin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286055.1 988 Missense Mutation ACA,AGA T244R NP_001272984.1
NM_001286056.1 988 Missense Mutation ACA,AGA T249R NP_001272985.1
NM_001839.4 988 Missense Mutation ACA,AGA T290R NP_001830.1
XM_017000245.1 988 Missense Mutation ACA,AGA T249R XP_016855734.1
Gene
SLC44A3
Gene Name
solute carrier family 44 member 3
There are no transcripts associated with this gene.

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