Product Details

SNP ID
rs142792294
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:70043165 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTATCTGCACTCAGCCAGTCCACCA[A/G]TCACCACAATGACCATGTTGCCTGT
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_001002254.1 557 Missense Mutation ACT,ATT T184I NP_001002254.1
XM_011530876.2 557 Missense Mutation ACT,ATT T184I XP_011529178.1
Gene
EDA
Gene Name
ectodysplasin A
There are no transcripts associated with this gene.

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