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ATGTCCCGTTCTGAAAGGCCGGCAC[A/G]CTCATGGGTGCTCAGCGTGATGTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 126090 MIM: 603729 | ||||||||||||||||||||
Literature Links: |
PCBD1 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 |
PCBD1 - pterin-4 alpha-carbinolamine dehydratase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000281.3 | 643 | Missense Mutation | CGT,TGT | R,C 82 | NP_000272.1 | |
NM_001289797.1 | 643 | Missense Mutation | CGT,TGT | R,C 33 | NP_001276726.1 | |
NM_001323004.1 | 643 | Intron | NP_001309933.1 |
SGPL1 - sphingosine-1-phosphate lyase 1 | ||||||
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There are no transcripts associated with this gene. |