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ACCACTGAAGCAGGCGCCCGAATCC[A/T]TCACGAAGTCCTCCACCACGAGCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602063 | ||||||||||||||||||||
Literature Links: |
LOC171391 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
LOC171391 - uncharacterized LOC171391 | ||||||
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There are no transcripts associated with this gene. |
PDDC1 - Parkinson disease 7 domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318818.1 | 587 | Missense Mutation | AAG,ATG | K,M 124 | NP_001305747.1 | |
NM_001318820.1 | 587 | Missense Mutation | AAG,ATG | K,M 138 | NP_001305749.1 | |
NM_001318821.1 | 587 | Missense Mutation | AAG,ATG | K,M 174 | NP_001305750.1 | |
NM_001318822.1 | 587 | Missense Mutation | AAG,ATG | K,M 88 | NP_001305751.1 | |
NM_001318823.1 | 587 | Missense Mutation | AAG,ATG | K,M 124 | NP_001305752.1 | |
NM_001318824.1 | 587 | Missense Mutation | AAG,ATG | K,M 138 | NP_001305753.1 | |
NM_182612.3 | 587 | Missense Mutation | AAG,ATG | K,M 174 | NP_872418.1 | |
XM_005252898.2 | 587 | UTR 3 | XP_005252955.1 | |||
XM_011520064.1 | 587 | Missense Mutation | AAG,ATG | K,M 174 | XP_011518366.1 | |
XM_017017660.1 | 587 | Missense Mutation | AAG,ATG | K,M 174 | XP_016873149.1 | |
XM_017017661.1 | 587 | Missense Mutation | AAG,ATG | K,M 174 | XP_016873150.1 | |
XM_017017662.1 | 587 | Intron | XP_016873151.1 | |||
XM_017017663.1 | 587 | Missense Mutation | AAG,ATG | K,M 138 | XP_016873152.1 | |
XM_017017664.1 | 587 | UTR 3 | XP_016873153.1 | |||
XM_017017665.1 | 587 | UTR 3 | XP_016873154.1 | |||
XM_017017666.1 | 587 | Missense Mutation | AAG,ATG | K,M 124 | XP_016873155.1 | |
XM_017017667.1 | 587 | UTR 3 | XP_016873156.1 | |||
XM_017017668.1 | 587 | Missense Mutation | AAG,ATG | K,M 124 | XP_016873157.1 |
TALDO1 - transaldolase 1 | ||||||
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There are no transcripts associated with this gene. |