Search Thermo Fisher Scientific
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AGCCATGACCAGTACAGGGAGCTGC[A/G]GAGGTACGCCGAGGAGGTTGGGATC
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 |
---|---|---|
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 |
NANS - N-acetylneuraminate synthase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018946.3 | 21 | Missense Mutation | CAG,CGG | Q,R 99 | NP_061819.2 | |
XM_011518787.2 | 21 | UTR 5 | XP_011517089.1 | |||
XM_011518788.2 | 21 | Intron | XP_011517090.1 | |||
XM_017014811.1 | 21 | Intron | XP_016870300.1 |