Product Details

SNP ID
rs182251004
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:69616609 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCGGTGGCCTCGACCCTGACAGC[C/T]CCATCACCAGTCACCTTGGGCAGCC
Phenotype
MIM: 300451
Polymorphism
C/T, Transition 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_001005609.1 524 Missense Mutation CCC,TCC P101S NP_001005609.1
NM_001005610.3 524 Missense Mutation CCC,TCC P101S NP_001005610.2
NM_001005612.2 524 Missense Mutation CCC,TCC P101S NP_001005612.2
NM_001005613.3 524 Missense Mutation CCC,TCC P101S NP_001005613.1
NM_001399.4 524 Missense Mutation CCC,TCC P101S NP_001390.1
XM_006724630.2 524 Missense Mutation CCC,TCC P101S XP_006724693.1
XM_011530885.2 524 Missense Mutation CCC,TCC P101S XP_011529187.1
XM_017029336.1 524 Missense Mutation CCC,TCC P101S XP_016884825.1
XM_017029337.1 524 Missense Mutation CCC,TCC P101S XP_016884826.1

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