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ACTTTGGGGGAGTATAAATTTGGAC[C/T]GCTTTTTGTGAGGTTGTGTTACGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615484 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PTCD2 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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PTCD2 - pentatricopeptide repeat domain 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284403.1 | 273 | Intron | NP_001271332.1 | |||
NM_001284404.1 | 273 | Intron | NP_001271333.1 | |||
NM_001284405.1 | 273 | UTR 5 | NP_001271334.1 | |||
NM_024754.4 | 273 | Missense Mutation | CCG,CTG | P,L 134 | NP_079030.3 | |
XM_005248601.2 | 273 | Missense Mutation | CCG,CTG | P,L 134 | XP_005248658.1 | |
XM_005248603.2 | 273 | UTR 5 | XP_005248660.1 | |||
XM_017009866.1 | 273 | Intron | XP_016865355.1 | |||
XM_017009867.1 | 273 | UTR 5 | XP_016865356.1 | |||
XM_017009868.1 | 273 | UTR 5 | XP_016865357.1 |