Product Details

SNP ID

rs199751050

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48700676 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATATGACCTCTGCATCTTCCGCACG[C/G]ATGATGGGCGTGGCTGGGGCGTCCG

Phenotype

MIM: 300254 MIM: 300392

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SUV39H1 PubMed Links

Gene Details

Gene

SUV39H1

Gene Name

suppressor of variegation 3-9 homolog 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282166.1	1050	Missense Mutation	CAT,GAT	H262D	NP_001269095.1
NM_003173.3	1050	Missense Mutation	CAT,GAT	H251D	NP_003164.1

Gene

WAS

Gene Name

Wiskott-Aldrich syndrome

There are no transcripts associated with this gene.

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