Product Details

SNP ID
rs150521786
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11538942 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCGGCCAGCATGTCCTCTGCTCA[C/G]TTCAACCGAGGCCCTGCCTACGGGC
Phenotype
MIM: 600806 MIM: 608388
Polymorphism
C/G, Transversion 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_001299.5 226 Missense Mutation CAC,CAG H5Q NP_001290.2
NM_001308341.1 226 UTR 5 NP_001295270.1
NM_001308342.1 226 UTR 5 NP_001295271.1
XM_005259741.2 226 Intron XP_005259798.1
XM_017026289.1 226 Intron XP_016881778.1
Gene
ECSIT
Gene Name
ECSIT signalling integrator
There are no transcripts associated with this gene.

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