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TGCATTTTACATAGTAAAAGACTTG[A/G]ACTGGAAATGGGTCATATTTGGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
19 submissions
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Phenotype: |
MIM: 615843 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DEGS1 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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DEGS1 - delta 4-desaturase, sphingolipid 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321541.1 | 322 | Missense Mutation | AAC,GAC | N,D 65 | NP_001308470.1 | |
NM_001321542.1 | 322 | Missense Mutation | AAC,GAC | N,D 29 | NP_001308471.1 | |
NM_003676.3 | 322 | Missense Mutation | AAC,GAC | N,D 65 | NP_003667.1 | |
XM_017002648.1 | 322 | Missense Mutation | AAC,GAC | N,D 29 | XP_016858137.1 |