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TTTGGAAGAATTCCCAGTAGATTGA[A/G]GCTATCATTTTCCTCTACATCAGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
ENTHD1 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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ENTHD1 - ENTH domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152512.3 | 1744 | Missense Mutation | CTC,TTC | L,F 488 | NP_689725.2 | |
XM_006724149.3 | 1744 | Missense Mutation | CTC,TTC | L,F 488 | XP_006724212.1 | |
XM_006724150.3 | 1744 | Missense Mutation | CTC,TTC | L,F 435 | XP_006724213.1 | |
XM_006724151.1 | 1744 | Missense Mutation | CTC,TTC | L,F 375 | XP_006724214.1 | |
XM_006724153.3 | 1744 | Intron | XP_006724216.1 | |||
XM_011529927.2 | 1744 | Missense Mutation | CTC,TTC | L,F 467 | XP_011528229.1 | |
XM_011529928.2 | 1744 | Missense Mutation | CTC,TTC | L,F 407 | XP_011528230.1 | |
XM_011529930.2 | 1744 | Missense Mutation | CTC,TTC | L,F 224 | XP_011528232.1 | |
XM_011529931.2 | 1744 | Intron | XP_011528233.1 |