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TGGCCCCTTGGAGGCTGTGGCTTCT[G/T]GGTAATGTCCACAAAGTTCACAAGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 138250 MIM: 613847 | ||||||||||||||||||||
Literature Links: |
ALDH18A1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
ALDH18A1 - aldehyde dehydrogenase 18 family member A1 | ||||||
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There are no transcripts associated with this gene. |
TCTN3 - tectonic family member 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143973.1 | 1656 | Missense Mutation | NP_001137445.1 | |||
NM_015631.5 | 1656 | Missense Mutation | NP_056446.4 | |||
XM_005269690.1 | 1656 | Nonsense Mutation | XP_005269747.1 | |||
XM_011539627.1 | 1656 | Nonsense Mutation | XP_011537929.1 | |||
XM_011539628.1 | 1656 | Nonsense Mutation | XP_011537930.1 |