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CATTGGGTCATCTGTAGACAGTGAG[A/T]TCATTAGCCCTTTCTGAAGGAAATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 102770 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AMPD1 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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AMPD1 - adenosine monophosphate deaminase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000036.2 | 2078 | Missense Mutation | AAC,ATC | N,I 677 | NP_000027.2 | |
NM_001172626.1 | 2078 | Missense Mutation | AAC,ATC | N,I 673 | NP_001166097.1 |
DENND2C - DENN domain containing 2C | ||||||
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There are no transcripts associated with this gene. |