Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACTTCCGGGTTTTGCTGAGGCTCTG[A/T]GGAGCTACCAGGAGGCTGCGGCTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
11 submissions
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Phenotype: |
MIM: 609853 | ||||||||||||||||||||
Literature Links: |
PPCS 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 |
PPCS - phosphopantothenoylcysteine synthetase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001077447.2 | 469 | Intron | NP_001070915.1 | |||
NM_001287506.1 | 469 | Intron | NP_001274435.1 | |||
NM_001287507.1 | 469 | Intron | NP_001274436.1 | |||
NM_001287508.1 | 469 | Intron | NP_001274437.1 | |||
NM_001287509.1 | 469 | Intron | NP_001274438.1 | |||
NM_001287510.1 | 469 | UTR 5 | NP_001274439.1 | |||
NM_001287511.1 | 469 | Missense Mutation | AGG,TGG | R,W 133 | NP_001274440.1 | |
NM_024664.3 | 469 | Missense Mutation | AGG,TGG | R,W 133 | NP_078940.2 |
ZMYND12 - zinc finger MYND-type containing 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001146192.1 | 469 | Intron | NP_001139664.1 | |||
NM_032257.4 | 469 | Intron | NP_115633.3 |