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TACTTCTAGAAGTGAGGCCCTCACT[C/T]CTGGTGCTGATTTTCAAAACTTCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613378 MIM: 232000 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GGACT 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
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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GGACT - gamma-glutamylamine cyclotransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001195087.1 | 2308 | UTR 3 | NP_001182016.1 | |||
NM_033110.2 | 2308 | UTR 3 | NP_149101.1 | |||
XM_005254083.2 | 2308 | UTR 3 | XP_005254140.1 | |||
XM_011521129.2 | 2308 | UTR 3 | XP_011519431.1 | |||
XM_017020804.1 | 2308 | UTR 3 | XP_016876293.1 |
PCCA - propionyl-CoA carboxylase alpha subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000282.3 | 2308 | Intron | NP_000273.2 | |||
NM_001127692.2 | 2308 | Intron | NP_001121164.1 | |||
NM_001178004.1 | 2308 | Intron | NP_001171475.1 | |||
XM_005254059.2 | 2308 | Intron | XP_005254116.1 | |||
XM_011521093.1 | 2308 | Intron | XP_011519395.1 | |||
XM_017020605.1 | 2308 | Intron | XP_016876094.1 | |||
XM_017020606.1 | 2308 | Intron | XP_016876095.1 | |||
XM_017020607.1 | 2308 | Intron | XP_016876096.1 | |||
XM_017020608.1 | 2308 | Intron | XP_016876097.1 | |||
XM_017020609.1 | 2308 | Intron | XP_016876098.1 | |||
XM_017020610.1 | 2308 | Intron | XP_016876099.1 | |||
XM_017020611.1 | 2308 | Intron | XP_016876100.1 | |||
XM_017020612.1 | 2308 | Intron | XP_016876101.1 | |||
XM_017020613.1 | 2308 | Intron | XP_016876102.1 | |||
XM_017020614.1 | 2308 | Intron | XP_016876103.1 | |||
XM_017020615.1 | 2308 | Intron | XP_016876104.1 | |||
XM_017020616.1 | 2308 | Intron | XP_016876105.1 | |||
XM_017020617.1 | 2308 | Intron | XP_016876106.1 | |||
XM_017020618.1 | 2308 | Intron | XP_016876107.1 |