Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TATCCTCCTTCTGGGAAATATCTTC[C/T]GCTTAAGTGCAATTAACTAAATGAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616747 MIM: 607840 MIM: 604759 | ||||||||||||||||||||
Literature Links: |
CHPT1 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 |
CHPT1 - choline phosphotransferase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020244.2 | 3799 | Intron | NP_064629.2 | |||
XM_011538574.1 | 3799 | Intron | XP_011536876.1 | |||
XM_011538575.1 | 3799 | Intron | XP_011536877.1 |
GNPTAB - N-acetylglucosamine-1-phosphate transferase alpha and beta subunits | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024312.4 | 3799 | Missense Mutation | CAG,CGG | Q,R 1237 | NP_077288.2 | |
XM_006719593.2 | 3799 | Intron | XP_006719656.1 | |||
XM_011538731.2 | 3799 | Missense Mutation | CAG,CGG | Q,R 1210 | XP_011537033.1 | |
XM_017019961.1 | 3799 | Missense Mutation | CAG,CGG | Q,R 1165 | XP_016875450.1 | |
XM_017019962.1 | 3799 | Missense Mutation | CAG,CGG | Q,R 828 | XP_016875451.1 |
SYCP3 - synaptonemal complex protein 3 | ||||||
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There are no transcripts associated with this gene. |