Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCGGGAGCGAGGGAGCCAGGGCTGC[G/T]GGTGTGGCGGGGCCCCTGCCCGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 300451 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EDA PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
EDA - ectodysplasin A | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005609.1 | 299 | Missense Mutation | GGG,TGG | G,W 26 | NP_001005609.1 | |
NM_001005610.3 | 299 | Missense Mutation | GGG,TGG | G,W 26 | NP_001005610.2 | |
NM_001005612.2 | 299 | Missense Mutation | GGG,TGG | G,W 26 | NP_001005612.2 | |
NM_001005613.3 | 299 | Missense Mutation | GGG,TGG | G,W 26 | NP_001005613.1 | |
NM_001399.4 | 299 | Missense Mutation | GGG,TGG | G,W 26 | NP_001390.1 | |
XM_006724630.2 | 299 | Missense Mutation | GGG,TGG | G,W 26 | XP_006724693.1 | |
XM_011530885.2 | 299 | Missense Mutation | GGG,TGG | G,W 26 | XP_011529187.1 | |
XM_017029336.1 | 299 | Missense Mutation | GGG,TGG | G,W 26 | XP_016884825.1 | |
XM_017029337.1 | 299 | Missense Mutation | GGG,TGG | G,W 26 | XP_016884826.1 |