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TGGCCATAGCTGGACTGTCTCTTTC[C/T]GCCATGAGGTACCATTGCTGAAGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608272 MIM: 606107 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NEU1 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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NEU1 - neuraminidase 1 (lysosomal sialidase) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000434.3 | 1226 | Missense Mutation | CAG,CGG | Q,R 357 | NP_000425.1 |
SLC44A4 - solute carrier family 44 member 4 | ||||||
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There are no transcripts associated with this gene. |