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GAGGAATAAGCTGATTACCCACAAA[C/T]ACGTAAGTGTTAATTCTCTGTTTAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615904 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PCMTD1 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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PCMTD1 - protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286782.1 | 714 | Silent Mutation | GTA,GTG | V,V 213 | NP_001273711.1 | |
NM_001286783.1 | 714 | Silent Mutation | GTA,GTG | V,V 113 | NP_001273712.1 | |
NM_052937.3 | 714 | Silent Mutation | GTA,GTG | V,V 289 | NP_443169.2 | |
XM_005251146.2 | 714 | Intron | XP_005251203.1 | |||
XM_011517444.2 | 714 | Silent Mutation | GTA,GTG | V,V 113 | XP_011515746.1 | |
XM_017013017.1 | 714 | Silent Mutation | GTA,GTG | V,V 113 | XP_016868506.1 |
PXDNL - peroxidasin like | ||||||
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There are no transcripts associated with this gene. |