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CCCTTCCTTCTGTTCCTCCAGCACC[A/G]GGTCCTGGACCAGATGCGCTCCTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609701 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NAGLU 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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NAGLU - N-acetyl-alpha-glucosaminidase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000263.3 | 760 | Missense Mutation | CAG,CGG | Q,R 228 | NP_000254.2 | |
XM_006721920.2 | 760 | UTR 5 | XP_006721983.1 | |||
XM_011524840.1 | 760 | UTR 5 | XP_011523142.1 | |||
XM_017024686.1 | 760 | Missense Mutation | CAG,CGG | Q,R 25 | XP_016880175.1 | |
XM_017024687.1 | 760 | UTR 5 | XP_016880176.1 |