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TTTCGGCAACAGCCCCTGCTCTGGG[C/G]CTGGAGGAAAAGGGGCATGTGCCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606869 | ||||||||||||||||||||
Literature Links: |
HEXA 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 |
HEXA - hexosaminidase subunit alpha | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000520.5 | 1956 | Missense Mutation | TGC,TGG | C,W 474 | NP_000511.2 | |
NM_001318825.1 | 1956 | Missense Mutation | TGC,TGG | C,W 485 | NP_001305754.1 |