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CGGCCGTAGTGAGTAGAAGAAGGGC[G/T]GCAGCACCAGCCAGAGCAGCTTGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610862 MIM: 616912 | ||||||||||||||||||||
Literature Links: |
DEGS2 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 |
DEGS2 - delta 4-desaturase, sphingolipid 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_206918.2 | 585 | Missense Mutation | CAG,CCG | Q,P 166 | NP_996801.2 | |
XM_006720043.3 | 585 | Missense Mutation | CAG,CCG | Q,P 130 | XP_006720106.1 |
EVL - Enah/Vasp-like | ||||||
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There are no transcripts associated with this gene. |