Product Details

SNP ID
rs200502212
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:174399964 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGATCAAGTTCCTGAAACATATGCT[A/G]TTGTCCTGAGTCGCCCAGCGTGGTT
Phenotype
MIM: 605228 MIM: 614967
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CIR1 PubMed Links

Gene Details

Gene
CIR1
Gene Name
corepressor interacting with RBPJ, 1
There are no transcripts associated with this gene.

Gene
SCRN3
Gene Name
secernin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193528.1 1297 Missense Mutation ATT,GTT I61V NP_001180457.1
NM_024583.4 1297 Missense Mutation ATT,GTT I68V NP_078859.2
XM_005246853.2 1297 Missense Mutation ATT,GTT I88V XP_005246910.1
XM_005246854.4 1297 Missense Mutation ATT,GTT I68V XP_005246911.1
XM_005246855.2 1297 Missense Mutation ATT,GTT I68V XP_005246912.1
XM_005246856.2 1297 Missense Mutation ATT,GTT I68V XP_005246913.1
XM_005246857.2 1297 Missense Mutation ATT,GTT I68V XP_005246914.1
XM_011511839.2 1297 UTR 5 XP_011510141.1
XM_017004909.1 1297 Missense Mutation ATT,GTT I68V XP_016860398.1
XM_017004910.1 1297 Missense Mutation ATT,GTT I68V XP_016860399.1

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