Product Details

SNP ID

rs147055703

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48698902 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCTTTCTGCCCCGCTTGATCCAG[A/G]CTGCAGCGTGTGTTGCAAGTCTTCT

Phenotype

MIM: 300254 MIM: 300392

Polymorphism

A/G, Transition 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	319	Missense Mutation	GAC,GGC	D18G	NP_001269095.1
NM_003173.3	319	Missense Mutation	GAC,GGC	D7G	NP_003164.1

Gene

WAS

Gene Name

Wiskott-Aldrich syndrome

There are no transcripts associated with this gene.

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