Product Details

SNP ID

rs200557606

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:150927770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGCAGCAACAGCTACAGTGGAGT[A/C]TGAAGAGATTGCAGAGCTGCAACAG

Phenotype

MIM: 604396

Polymorphism

A/C, 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	246	Missense Mutation	TAT,TCT	Y19S	NP_001138887.1
NM_001243491.1	246	Missense Mutation	TAT,TCT	Y19S	NP_001230420.1
NM_012432.3	246	Missense Mutation	TAT,TCT	Y19S	NP_036564.3
XM_005245641.3	246	Missense Mutation	TAT,TCT	Y19S	XP_005245698.1
XM_017002953.1	246	Missense Mutation	TAT,TCT	Y19S	XP_016858442.1
XM_017002954.1	246	Missense Mutation	TAT,TCT	Y19S	XP_016858443.1
XM_017002955.1	246	Missense Mutation	TAT,TCT	Y19S	XP_016858444.1

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