Product Details

SNP ID

rs145224923

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:174399952 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATATATAGAAATTGATCAAGTTCCT[C/G]AAACATATGCTGTTGTCCTGAGTCG

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

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	1285	Missense Mutation	CAA,GAA	Q57E	NP_001180457.1
NM_024583.4	1285	Missense Mutation	CAA,GAA	Q64E	NP_078859.2
XM_005246853.2	1285	Missense Mutation	CAA,GAA	Q84E	XP_005246910.1
XM_005246854.4	1285	Missense Mutation	CAA,GAA	Q64E	XP_005246911.1
XM_005246855.2	1285	Missense Mutation	CAA,GAA	Q64E	XP_005246912.1
XM_005246856.2	1285	Missense Mutation	CAA,GAA	Q64E	XP_005246913.1
XM_005246857.2	1285	Missense Mutation	CAA,GAA	Q64E	XP_005246914.1
XM_011511839.2	1285	UTR 5			XP_011510141.1
XM_017004909.1	1285	Missense Mutation	CAA,GAA	Q64E	XP_016860398.1
XM_017004910.1	1285	Missense Mutation	CAA,GAA	Q64E	XP_016860399.1

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