Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCACATAATTTTTTTGCTCAGGTA[T/C]CTCTGCACATAACTCTGTCACAGAA
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
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CEPH (CEU)
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EAS
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African American
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YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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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 | 1773 | Missense Mutation | ATA,GTA | I,V 506 | 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 | 1773 | Intron | NP_001186706.1 | |||
NM_172240.2 | 1773 | 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 | 1773 | Missense Mutation | ATA,GTA | I,V 503 | NP_001186710.1 | |
NM_001199782.1 | 1773 | Missense Mutation | ATA,GTA | I,V 334 | NP_001186711.1 |
Set Membership: |
HapMap Validated |