Product Details

SNP ID
rs149734482
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11541100 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGCCCAGAAGTATGACCACCAG[C/T]GGGAGCAGGAGCTGAGAGAGTGGAT
Phenotype
MIM: 600806
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CNN1 PubMed Links

Gene Details

Gene
CNN1
Gene Name
calponin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001299.5 148 Missense Mutation CGG,TGG R30W NP_001290.2
NM_001308341.1 148 UTR 5 NP_001295270.1
NM_001308342.1 148 UTR 5 NP_001295271.1
XM_005259741.2 148 UTR 5 XP_005259798.1
XM_017026289.1 148 Missense Mutation CGG,TGG R96W XP_016881778.1

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