Product Details

SNP ID
rs145251874
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:150927746 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCTTCCTGGGTGCATTGGTTTGG[A/T]TGCAGCAACAGCTACAGTGGAGTCT
Phenotype
MIM: 604396
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
SETDB1 PubMed Links

Gene Details

Gene
SETDB1
Gene Name
SET domain bifurcated 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145415.1 222 Missense Mutation GAT,GTT D11V NP_001138887.1
NM_001243491.1 222 Missense Mutation GAT,GTT D11V NP_001230420.1
NM_012432.3 222 Missense Mutation GAT,GTT D11V NP_036564.3
XM_005245641.3 222 Missense Mutation GAT,GTT D11V XP_005245698.1
XM_017002953.1 222 Missense Mutation GAT,GTT D11V XP_016858442.1
XM_017002954.1 222 Missense Mutation GAT,GTT D11V XP_016858443.1
XM_017002955.1 222 Missense Mutation GAT,GTT D11V XP_016858444.1

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