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GAGCCCGGACTGCGGAAGGATGGAG[C/T]TGGCCGCCGGAAGCTTCTCGGAGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606055 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PCTP 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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PCTP - phosphatidylcholine transfer protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001102402.2 | 132 | UTR 5 | NP_001095872.1 | |||
NM_021213.3 | 132 | Silent Mutation | CTG,TTG | L,L 3 | NP_067036.2 | |
XM_005257549.1 | 132 | Silent Mutation | CTG,TTG | L,L 3 | XP_005257606.1 | |
XM_005257550.3 | 132 | Silent Mutation | CTG,TTG | L,L 3 | XP_005257607.1 | |
XM_017024913.1 | 132 | Intron | XP_016880402.1 |