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CCTCTGTTTGTTCCACCGTGACCAC[A/G]ACCCGAATGCTGAGAACAGTAAAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605712 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SPTLC1 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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SPTLC1 - serine palmitoyltransferase long chain base subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001281303.1 | 1442 | Intron | NP_001268232.1 | |||
NM_006415.3 | 1442 | Silent Mutation | GTC,GTT | V,V 446 | NP_006406.1 | |
NM_178324.2 | 1442 | Intron | NP_847894.1 | |||
XM_011518138.2 | 1442 | Intron | XP_011516440.1 | |||
XM_011518139.2 | 1442 | Silent Mutation | GTC,GTT | V,V 291 | XP_011516441.1 | |
XM_017014200.1 | 1442 | Silent Mutation | GTC,GTT | V,V 324 | XP_016869689.1 | |
XM_017014201.1 | 1442 | Silent Mutation | GTC,GTT | V,V 324 | XP_016869690.1 | |
XM_017014202.1 | 1442 | Silent Mutation | GTC,GTT | V,V 319 | XP_016869691.1 |