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AGCAGCGCCGCGGGAGCGAGGGAGC[C/T]AGGGCTGCGGGTGTGGCGGGGCCCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300451 | ||||||||||||||||||||
Literature Links: |
EDA PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
EDA - ectodysplasin A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005609.1 | 290 | Nonsense Mutation | CAG,TAG | Q,* 23 | NP_001005609.1 | |
NM_001005610.3 | 290 | Nonsense Mutation | CAG,TAG | Q,* 23 | NP_001005610.2 | |
NM_001005612.2 | 290 | Nonsense Mutation | CAG,TAG | Q,* 23 | NP_001005612.2 | |
NM_001005613.3 | 290 | Nonsense Mutation | CAG,TAG | Q,* 23 | NP_001005613.1 | |
NM_001399.4 | 290 | Nonsense Mutation | CAG,TAG | Q,* 23 | NP_001390.1 | |
XM_006724630.2 | 290 | Nonsense Mutation | CAG,TAG | Q,* 23 | XP_006724693.1 | |
XM_011530885.2 | 290 | Nonsense Mutation | CAG,TAG | Q,* 23 | XP_011529187.1 | |
XM_017029336.1 | 290 | Nonsense Mutation | CAG,TAG | Q,* 23 | XP_016884825.1 | |
XM_017029337.1 | 290 | Nonsense Mutation | CAG,TAG | Q,* 23 | XP_016884826.1 |