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AAGGGAACAGTTAAATCAGATTTAC[A/G]TGATAAACTATGGGTTGTCATTTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
13 submissions
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Phenotype: |
MIM: 609061 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ENAH PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
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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ENAH - enabled homolog (Drosophila) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001008493.1 | 7816 | UTR 3 | NP_001008493.1 | |||
NM_018212.4 | 7816 | UTR 3 | NP_060682.2 | |||
XM_005273187.2 | 7816 | UTR 3 | XP_005273244.1 | |||
XM_011544229.2 | 7816 | Intron | XP_011542531.2 | |||
XM_017001746.1 | 7816 | UTR 3 | XP_016857235.1 | |||
XM_017001747.1 | 7816 | Intron | XP_016857236.1 | |||
XM_017001748.1 | 7816 | Intron | XP_016857237.1 | |||
XM_017001749.1 | 7816 | Intron | XP_016857238.1 | |||
XM_017001750.1 | 7816 | Intron | XP_016857239.1 | |||
XM_017001751.1 | 7816 | UTR 3 | XP_016857240.1 | |||
XM_017001752.1 | 7816 | Intron | XP_016857241.1 | |||
XM_017001753.1 | 7816 | UTR 3 | XP_016857242.1 | |||
XM_017001754.1 | 7816 | UTR 3 | XP_016857243.1 | |||
XM_017001755.1 | 7816 | UTR 3 | XP_016857244.1 | |||
XM_017001756.1 | 7816 | UTR 3 | XP_016857245.1 | |||
XM_017001757.1 | 7816 | UTR 3 | XP_016857246.1 |