Product Details

SNP ID

rs200739971

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:70236108 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGGGTAAGGAACTGGTGTGTCT[A/G]GACCCACATCAGGGACTATTTCCCC

Phenotype

MIM: 300924

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AWAT1 PubMed Links

Gene Details

Gene

AWAT1

Gene Name

acyl-CoA wax alcohol acyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013579.2	265	Nonsense Mutation	TAG,TGG	*75W	NP_001013597.1
XM_017029295.1	265	Nonsense Mutation	TAG,TGG	*75W	XP_016884784.1

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