Product Details

SNP ID
rs112137665
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:174395773 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCAACTGATGCCTCCACTGGCCA[C/G]TCCTCCCTCCGTCCACCTGTCACTT
Phenotype
MIM: 605228 MIM: 614967
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CIR1 PubMed Links

Gene Details

Gene
CIR1
Gene Name
corepressor interacting with RBPJ, 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004882.3 6 Intron NP_004873.3
Gene
SCRN3
Gene Name
secernin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193528.1 6 Missense Mutation ACT,AGT T6S NP_001180457.1
NM_024583.4 6 UTR 5 NP_078859.2
XM_005246853.2 6 UTR 5 XP_005246910.1
XM_005246854.4 6 UTR 5 XP_005246911.1
XM_005246855.2 6 UTR 5 XP_005246912.1
XM_005246856.2 6 UTR 5 XP_005246913.1
XM_005246857.2 6 Intron XP_005246914.1
XM_011511839.2 6 UTR 5 XP_011510141.1
XM_017004909.1 6 Intron XP_016860398.1
XM_017004910.1 6 UTR 5 XP_016860399.1

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