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TCTGTTCTTTTGTGTCCCAACAGCT[C/T]GAGATTTCTGTGGCTCCTCAAGATA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 111730 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
B4GALNT2 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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B4GALNT2 - beta-1,4-N-acetyl-galactosaminyltransferase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001159387.1 | 409 | Missense Mutation | TCG,TTG | S,L 6 | NP_001152859.1 | |
NM_001159388.1 | 409 | UTR 5 | NP_001152860.1 | |||
NM_153446.2 | 409 | Missense Mutation | TCG,TTG | S,L 66 | NP_703147.2 | |
XM_011524314.2 | 409 | Missense Mutation | TCG,TTG | S,L 66 | XP_011522616.1 | |
XM_017024173.1 | 409 | UTR 5 | XP_016879662.1 |