Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACAAGTTCTCATTTGTACATCAGGT[C/T]GGCCCTCCGGTGTCCGATAAGCACT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603565 MIM: 614784 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GALNT4 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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GALNT4 - polypeptide N-acetylgalactosaminyltransferase 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003774.4 | 1927 | Missense Mutation | CAA,CGA | Q,R 557 | NP_003765.2 |
POC1B - POC1 centriolar protein B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199777.1 | 1927 | Intron | NP_001186706.1 | |||
NM_172240.2 | 1927 | Intron | NP_758440.1 |
POC1B-GALNT4 - POC1B-GALNT4 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199781.1 | 1927 | Missense Mutation | CAA,CGA | Q,R 554 | NP_001186710.1 | |
NM_001199782.1 | 1927 | Missense Mutation | CAA,CGA | Q,R 385 | NP_001186711.1 |