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GGCTGTGGACCCAGTGGGAGTGGCT[C/T]TCTGAGGTGCAGGAGGCCATGGTAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300276 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EDA2R PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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EDA2R - ectodysplasin A2 receptor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199687.2 | 897 | Silent Mutation | GAA,GAG | E,E 242 | NP_001186616.1 | |
NM_001242310.1 | 897 | Silent Mutation | GAA,GAG | E,E 263 | NP_001229239.1 | |
NM_001324199.1 | 897 | Silent Mutation | GAA,GAG | E,E 118 | NP_001311128.1 | |
NM_001324201.1 | 897 | Silent Mutation | GAA,GAG | E,E 210 | NP_001311130.1 | |
NM_001324202.1 | 897 | Intron | NP_001311131.1 | |||
NM_001324204.1 | 897 | Intron | NP_001311133.1 | |||
NM_001324205.1 | 897 | Intron | NP_001311134.1 | |||
NM_001324206.1 | 897 | Silent Mutation | GAA,GAG | E,E 244 | NP_001311135.1 | |
NM_021783.4 | 897 | Silent Mutation | GAA,GAG | E,E 242 | NP_068555.1 | |
XM_011531000.1 | 897 | Silent Mutation | GAA,GAG | E,E 263 | XP_011529302.1 | |
XM_011531001.1 | 897 | Silent Mutation | GAA,GAG | E,E 263 | XP_011529303.1 | |
XM_011531002.1 | 897 | Intron | XP_011529304.1 | |||
XM_011531003.2 | 897 | Silent Mutation | GAA,GAG | E,E 183 | XP_011529305.1 | |
XM_011531004.1 | 897 | Intron | XP_011529306.1 | |||
XM_011531005.2 | 897 | Silent Mutation | GAA,GAG | E,E 118 | XP_011529307.1 | |
XM_011531006.2 | 897 | Intron | XP_011529308.1 | |||
XM_011531007.2 | 897 | Intron | XP_011529309.1 | |||
XM_017029703.1 | 897 | Silent Mutation | GAA,GAG | E,E 210 | XP_016885192.1 | |
XM_017029704.1 | 897 | Intron | XP_016885193.1 | |||
XM_017029705.1 | 897 | Silent Mutation | GAA,GAG | E,E 164 | XP_016885194.1 | |
XM_017029706.1 | 897 | Intron | XP_016885195.1 | |||
XM_017029707.1 | 897 | Silent Mutation | GAA,GAG | E,E 139 | XP_016885196.1 | |
XM_017029708.1 | 897 | Intron | XP_016885197.1 |