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GGGCGCTGGGTGGGCGGGCAACACC[C/T]GTGCTTCATCATTGCCGAGATCGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605202 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NANS 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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NANS - N-acetylneuraminate synthase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018946.3 | 185 | Missense Mutation | CCG,CTG | P,L 18 | NP_061819.2 | |
XM_011518787.2 | 185 | Intron | XP_011517089.1 | |||
XM_011518788.2 | 185 | Intron | XP_011517090.1 | |||
XM_017014811.1 | 185 | Intron | XP_016870300.1 |