Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608210 | |||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
EXT2 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | ||||||
AFR
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Japanese - Not Available | JPT (Japanese)
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EUR
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AMR
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EXT2 - exostosin glycosyltransferase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000401.3 | 387 | Missense Mutation | ATG,GTG | M,V 75 | NP_000392.3 | |
NM_001178083.1 | 387 | Missense Mutation | ATG,GTG | M,V 42 | NP_001171554.1 | |
NM_207122.1 | 387 | Missense Mutation | ATG,GTG | M,V 42 | NP_997005.1 | |
XM_011519950.1 | 387 | Missense Mutation | ATG,GTG | M,V 88 | XP_011518252.1 | |
XM_011519951.1 | 387 | Missense Mutation | ATG,GTG | M,V 55 | XP_011518253.1 |
Set Membership: |
HapMap |