Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACAGCATCCAGCCGCTCAATCTGCA[C/T]CAGTTTTGTGAGTAGCTCAGGGATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604095 MIM: 601181 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EDAR 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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EDAR - ectodysplasin A receptor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022336.3 | 1536 | Missense Mutation | ATG,GTG | M,V 416 | NP_071731.1 | |
XM_006712204.1 | 1536 | Missense Mutation | ATG,GTG | M,V 448 | XP_006712267.1 | |
XM_011510502.2 | 1536 | Missense Mutation | ATG,GTG | M,V 496 | XP_011508804.2 | |
XM_011510503.2 | 1536 | Missense Mutation | ATG,GTG | M,V 464 | XP_011508805.2 |
RANBP2 - RAN binding protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006267.4 | 1536 | Intron | NP_006258.3 | |||
XM_005264002.2 | 1536 | Intron | XP_005264059.1 | |||
XM_005264003.2 | 1536 | Intron | XP_005264060.1 | |||
XM_005264004.2 | 1536 | Intron | XP_005264061.1 | |||
XM_005264005.4 | 1536 | Intron | XP_005264062.1 | |||
XM_005264007.2 | 1536 | Intron | XP_005264064.1 | |||
XM_011511575.2 | 1536 | Intron | XP_011509877.1 | |||
XM_011511576.2 | 1536 | Intron | XP_011509878.1 | |||
XM_011511578.2 | 1536 | Intron | XP_011509880.1 | |||
XM_017004623.1 | 1536 | Intron | XP_016860112.1 | |||
XM_017004624.1 | 1536 | Intron | XP_016860113.1 | |||
XM_017004625.1 | 1536 | Intron | XP_016860114.1 |