Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGCAGAAAAATGGCATAAACAGCC[A/G]ATCCCTTTGAGGTATACCTGGGAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 612280 | ||||||||||||||||||||
Literature Links: |
FUCA1 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 |
FUCA1 - fucosidase, alpha-L- 1, tissue | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000147.4 | 846 | Missense Mutation | TCG,TTG | S,L 393 | NP_000138.2 | |
XM_005245821.2 | 846 | Missense Mutation | TCG,TTG | S,L 268 | XP_005245878.1 | |
XM_011541167.2 | 846 | Missense Mutation | TCG,TTG | S,L 182 | XP_011539469.1 | |
XM_017000905.1 | 846 | Missense Mutation | TCG,TTG | S,L 292 | XP_016856394.1 |