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ATTCCAGAATAGCCACTGTTGGTTT[A/C]TTTTTCCAAATTGTCCATGTTTACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 submissions
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Phenotype: |
MIM: 602411 | ||||||||||||||||||||
Literature Links: |
EXTL2 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 |
EXTL2 - exostosin like glycosyltransferase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001033025.2 | 1750 | Nonsense Mutation | GAA,TAA | E,* 275 | NP_001028197.1 | |
NM_001261440.1 | 1750 | Nonsense Mutation | GAA,TAA | E,* 274 | NP_001248369.1 | |
NM_001261441.1 | 1750 | Nonsense Mutation | GAA,TAA | E,* 283 | NP_001248370.1 | |
NM_001261442.1 | 1750 | UTR 3 | NP_001248371.1 | |||
NM_001439.3 | 1750 | Nonsense Mutation | GAA,TAA | E,* 275 | NP_001430.1 | |
XM_005270621.1 | 1750 | Nonsense Mutation | GAA,TAA | E,* 275 | XP_005270678.1 | |
XM_011540994.2 | 1750 | Nonsense Mutation | GAA,TAA | E,* 283 | XP_011539296.1 | |
XM_011540995.2 | 1750 | Nonsense Mutation | GAA,TAA | E,* 283 | XP_011539297.1 | |
XM_011540996.2 | 1750 | Nonsense Mutation | GAA,TAA | E,* 282 | XP_011539298.1 | |
XM_017000651.1 | 1750 | Nonsense Mutation | GAA,TAA | E,* 274 | XP_016856140.1 |