Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603094 MIM: 611931 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
B3GALNT1 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 | 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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B3GALNT1 - beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001038628.1 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | NP_001033717.1 | |
NM_003781.3 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | NP_003772.1 | |
NM_033167.2 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | NP_149357.1 | |
NM_033168.2 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | NP_149358.1 | |
NM_033169.2 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | NP_149359.1 | |
XM_005247859.4 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_005247916.1 | |
XM_005247861.3 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_005247918.1 | |
XM_005247862.3 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_005247919.1 | |
XM_005247864.3 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_005247921.1 | |
XM_006713803.3 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_006713866.1 | |
XM_006713804.3 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_006713867.1 | |
XM_006713805.3 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_006713868.1 | |
XM_017007402.1 | 1004 | Missense Mutation | AAC,GAC | N,D 246 | XP_016862891.1 | |
XM_017007403.1 | 1004 | Missense Mutation | AAC,GAC | N,D 246 | XP_016862892.1 | |
XM_017007404.1 | 1004 | Missense Mutation | AAC,GAC | N,D 246 | XP_016862893.1 | |
XM_017007405.1 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_016862894.1 | |
XM_017007406.1 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_016862895.1 | |
XM_017007407.1 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_016862896.1 | |
XM_017007408.1 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_016862897.1 | |
XM_017007409.1 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_016862898.1 | |
XM_017007410.1 | 1004 | Missense Mutation | AAC,GAC | N,D 126 | XP_016862899.1 | |
XM_017007411.1 | 1004 | UTR 3 | XP_016862900.1 | |||
XM_017007412.1 | 1004 | UTR 3 | XP_016862901.1 | |||
XM_017007413.1 | 1004 | Intron | XP_016862902.1 |
PPM1L - protein phosphatase, Mg2+/Mn2+ dependent 1L | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |