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Search Thermo Fisher Scientific
CATCCAGGCCATTGTCCCGCTTCTG[A/G]GAGTGGGGAAAGAACATCGTCTGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616320 MIM: 138760 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FAHD1 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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FAHD1 - fumarylacetoacetate hydrolase domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018104.2 | 48 | Nonsense Mutation | TGA,TGG | *,W 14 | NP_001018114.1 | |
NM_001142398.1 | 48 | Nonsense Mutation | TGA,TGG | *,W 14 | NP_001135870.1 | |
NM_031208.3 | 48 | Intron | NP_112485.1 |
HAGH - hydroxyacylglutathione hydrolase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001040427.1 | 48 | Intron | NP_001035517.1 | |||
NM_001286249.1 | 48 | Intron | NP_001273178.1 | |||
NM_005326.4 | 48 | Intron | NP_005317.2 | |||
XM_011522469.2 | 48 | Intron | XP_011520771.1 | |||
XM_011522470.2 | 48 | Intron | XP_011520772.1 | |||
XM_017023195.1 | 48 | Intron | XP_016878684.1 |
MEIOB - meiosis specific with OB domains | ||||||
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There are no transcripts associated with this gene. |