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Search Thermo Fisher Scientific
CGAGCTGAAGTTCCACTACATGGTG[C/T]ACACATCTCTGGACGTGGTGGATGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612222 MIM: 610970 | ||||||||||||||||||||
Literature Links: |
GALNS PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
GALNS - galactosamine (N-acetyl)-6-sulfatase | ||||||
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There are no transcripts associated with this gene. |
PABPN1L - poly(A) binding protein nuclear 1 like (cytoplasmic) | ||||||
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There are no transcripts associated with this gene. |
TRAPPC2L - trafficking protein particle complex 2-like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318524.1 | 162 | Missense Mutation | CAC,TAC | H,Y 33 | NP_001305453.1 | |
NM_001318525.1 | 162 | Missense Mutation | CAC,TAC | H,Y 33 | NP_001305454.1 | |
NM_001318526.1 | 162 | UTR 5 | NP_001305455.1 | |||
NM_001318527.1 | 162 | UTR 5 | NP_001305456.1 | |||
NM_001318528.1 | 162 | Missense Mutation | CAC,TAC | H,Y 3 | NP_001305457.1 | |
NM_001318529.1 | 162 | UTR 5 | NP_001305458.1 | |||
NM_001318530.1 | 162 | Missense Mutation | CAC,TAC | H,Y 3 | NP_001305459.1 | |
NM_001318532.1 | 162 | UTR 5 | NP_001305461.1 | |||
NM_016209.4 | 162 | Missense Mutation | CAC,TAC | H,Y 33 | NP_057293.1 | |
XM_017023270.1 | 162 | UTR 5 | XP_016878759.1 |