Product Details

SNP ID
rs200536303
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:34713396 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTACAGTATCACCAATGTCACCCA[C/T]CAAGATCTGCTTTGCTTCCTCTACA
Phenotype
MIM: 601443
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CFL2 PubMed Links

Gene Details

Gene
CFL2
Gene Name
cofilin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243645.1 248 Missense Mutation ATG,GTG M40V NP_001230574.1
NM_021914.7 248 Missense Mutation ATG,GTG M57V NP_068733.1
NM_138638.4 248 Missense Mutation ATG,GTG M57V NP_619579.1
XM_011536363.2 248 Missense Mutation ATG,GTG M40V XP_011534665.1

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