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TGTGTGCGTCGGTCAAGTATAATAT[C/T]CGGGGTCCTGCCCTCATCCCAAGAA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
EXT2 - exostosin glycosyltransferase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000401.3 | 290 | Silent Mutation | ATC,ATT | I,I 42 | NP_000392.3 | |
NM_001178083.1 | 290 | Silent Mutation | ATC,ATT | I,I 9 | NP_001171554.1 | |
NM_207122.1 | 290 | Silent Mutation | ATC,ATT | I,I 9 | NP_997005.1 | |
XM_011519950.1 | 290 | Silent Mutation | ATC,ATT | I,I 55 | XP_011518252.1 | |
XM_011519951.1 | 290 | Silent Mutation | ATC,ATT | I,I 22 | XP_011518253.1 |