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AGTTCCGGACACCCCCTACCGGCTG[A/T]GGCTTCCTGCTCGCAGCCACCTGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613441 | ||||||||||||||||||||
Literature Links: |
SLC35E4 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 |
SLC35E4 - solute carrier family 35 member E4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001001479.3 | 2295 | Missense Mutation | TGA,TGT | *,C 189 | NP_001001479.1 | |
NM_001318370.1 | 2295 | Missense Mutation | TGA,TGT | *,C 189 | NP_001305299.1 | |
NM_001318371.1 | 2295 | Missense Mutation | TGA,TGT | *,C 189 | NP_001305300.1 | |
XM_017028794.1 | 2295 | Nonsense Mutation | TGA,TGT | *,C 189 | XP_016884283.1 | |
XM_017028795.1 | 2295 | Nonsense Mutation | TGA,TGT | *,C 189 | XP_016884284.1 |
TCN2 - transcobalamin 2 | ||||||
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There are no transcripts associated with this gene. |