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TCTGGTGTCAAAGCTTTTGGACATT[C/T]CTGGGGTGAGTATCCTCACCAGATA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609854 MIM: 613766 | ||||||||||||||||||||
Literature Links: |
PPCDC 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 |
PPCDC - phosphopantothenoylcysteine decarboxylase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301101.1 | 274 | Missense Mutation | CCT,TCT | P,S 44 | NP_001288030.1 | |
NM_001301102.1 | 274 | Missense Mutation | CCT,TCT | P,S 44 | NP_001288031.1 | |
NM_001301103.1 | 274 | Missense Mutation | CCT,TCT | P,S 44 | NP_001288032.1 | |
NM_001301104.1 | 274 | Intron | NP_001288033.1 | |||
NM_001301105.1 | 274 | Intron | NP_001288034.1 | |||
NM_021823.4 | 274 | Missense Mutation | CCT,TCT | P,S 44 | NP_068595.3 | |
XM_017022461.1 | 274 | Missense Mutation | CCT,TCT | P,S 44 | XP_016877950.1 | |
XM_017022462.1 | 274 | Intron | XP_016877951.1 | |||
XM_017022463.1 | 274 | Intron | XP_016877952.1 | |||
XM_017022464.1 | 274 | Missense Mutation | CCT,TCT | P,S 44 | XP_016877953.1 | |
XM_017022465.1 | 274 | Missense Mutation | CCT,TCT | P,S 44 | XP_016877954.1 |
SCAMP5 - secretory carrier membrane protein 5 | ||||||
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There are no transcripts associated with this gene. |