Product Details

SNP ID
rs132630309
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:69616514 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACCTAGAGTTGCGCTCGGAGTTGC[G/T]GCGGGAACGTGGAGCCGAGTCCCGC
Phenotype
MIM: 300451
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
EDA PubMed Links

Gene Details

Gene
EDA
Gene Name
ectodysplasin A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005609.1 429 Missense Mutation CGG,CTG R69L NP_001005609.1
NM_001005610.3 429 Missense Mutation CGG,CTG R69L NP_001005610.2
NM_001005612.2 429 Missense Mutation CGG,CTG R69L NP_001005612.2
NM_001005613.3 429 Missense Mutation CGG,CTG R69L NP_001005613.1
NM_001399.4 429 Missense Mutation CGG,CTG R69L NP_001390.1
XM_006724630.2 429 Missense Mutation CGG,CTG R69L XP_006724693.1
XM_011530885.2 429 Missense Mutation CGG,CTG R69L XP_011529187.1
XM_017029336.1 429 Missense Mutation CGG,CTG R69L XP_016884825.1
XM_017029337.1 429 Missense Mutation CGG,CTG R69L XP_016884826.1

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