Product Details

SNP ID

hCV14051

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48685616 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACTCCACCCCCACCCCCTTCTTC[T/C]ACACCTTCGCTGGAGATGTAAGTGA

Phenotype

MIM: 300254 MIM: 300392

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

SUV39H1 PubMed Links

Gene Details

Gene

SUV39H1

Gene Name

suppressor of variegation 3-9 homolog 1

There are no transcripts associated with this gene.

Gene

WAS

Gene Name

Wiskott-Aldrich syndrome

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000377.2	400	Missense Mutation	CAC,TAC	H115Y	NP_000368.1

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