Search Thermo Fisher Scientific
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CCAGCACCGGGTCCTGGACCAGATG[C/T]GCTCCTTCGGCATGACCCCAGTGCT
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 |
---|---|---|
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 |
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 | 777 | Missense Mutation | CGC,TGC | R,C 234 | NP_000254.2 | |
XM_006721920.2 | 777 | UTR 5 | XP_006721983.1 | |||
XM_011524840.1 | 777 | UTR 5 | XP_011523142.1 | |||
XM_017024686.1 | 777 | Missense Mutation | CGC,TGC | R,C 31 | XP_016880175.1 | |
XM_017024687.1 | 777 | UTR 5 | XP_016880176.1 |