Product Details

SNP ID

rs144623268

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:150927941 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAATACAGAAAGAATCTGAGGTGG[C/T]TCACGTTGACCAACTCTTTGATGAT

Phenotype

MIM: 604396

Polymorphism

C/T, Transition 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	417	Missense Mutation	GCT,GTT	A76V	NP_001138887.1
NM_001243491.1	417	Missense Mutation	GCT,GTT	A76V	NP_001230420.1
NM_012432.3	417	Missense Mutation	GCT,GTT	A76V	NP_036564.3
XM_005245641.3	417	Missense Mutation	GCT,GTT	A76V	XP_005245698.1
XM_017002953.1	417	Missense Mutation	GCT,GTT	A76V	XP_016858442.1
XM_017002954.1	417	Missense Mutation	GCT,GTT	A76V	XP_016858443.1
XM_017002955.1	417	Missense Mutation	GCT,GTT	A76V	XP_016858444.1

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