Product Details

SNP ID

rs200995684

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:70041891 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAGTTTACGTAGGGCATCAATAT[A/G]GAGTGTGTGATATTTAGCCACGATC

Phenotype

MIM: 300925 MIM: 300451

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AWAT2 PubMed Links

Gene Details

Gene

AWAT2

Gene Name

acyl-CoA wax alcohol acyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002254.1	925	Missense Mutation	CAT,TAT	H307Y	NP_001002254.1
XM_011530876.2	925	Missense Mutation	CAT,TAT	H307Y	XP_011529178.1

Gene

EDA

Gene Name

ectodysplasin A

There are no transcripts associated with this gene.

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