Product Details

SNP ID
rs144096099
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11553770 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTACTGATTGGCCGCCTCGCAGGC[A/G]TCTATCCAATCACTGTACACATCCA
Phenotype
MIM: 600806
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CNN1 PubMed Links

Gene Details

Gene
CNN1
Gene Name
calponin 1
There are no transcripts associated with this gene.

Gene
ELOF1
Gene Name
elongation factor 1 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032377.3 446 Silent Mutation GAC,GAT D76D NP_115753.1
XM_017027356.1 446 Silent Mutation GAC,GAT D97D XP_016882845.1
XM_017027357.1 446 Silent Mutation GAC,GAT D83D XP_016882846.1
XM_017027358.1 446 Silent Mutation GAC,GAT D76D XP_016882847.1
XM_017027359.1 446 Silent Mutation GAC,GAT D76D XP_016882848.1
Gene
LOC105369211
Gene Name
uncharacterized LOC105369211
There are no transcripts associated with this gene.

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