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GCCCCAGTCTCTGCTTGGCTTTGTG[A/G]CATTTTTCAAACGCTGCATGAGGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
14 submissions
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Phenotype: |
MIM: 604013 MIM: 601019 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
B4GALT2 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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B4GALT2 - beta-1,4-galactosyltransferase 2 | ||||||
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There are no transcripts associated with this gene. |
CCDC24 - coiled-coil domain containing 24 | ||||||
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There are no transcripts associated with this gene. |
SLC6A9 - solute carrier family 6 member 9 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001024845.2 | 2147 | Missense Mutation | GCC,GTC | A,V 574 | NP_001020016.1 | |
NM_001261380.1 | 2147 | Missense Mutation | GCC,GTC | A,V 578 | NP_001248309.1 | |
NM_006934.3 | 2147 | Missense Mutation | GCC,GTC | A,V 593 | NP_008865.2 | |
NM_201649.3 | 2147 | Missense Mutation | GCC,GTC | A,V 647 | NP_964012.2 | |
XM_011542017.2 | 2147 | Intron | XP_011540319.1 | |||
XM_017002151.1 | 2147 | Missense Mutation | GCC,GTC | A,V 574 | XP_016857640.1 | |
XM_017002152.1 | 2147 | Missense Mutation | GCC,GTC | A,V 547 | XP_016857641.1 | |
XM_017002153.1 | 2147 | Missense Mutation | GCC,GTC | A,V 536 | XP_016857642.1 |