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CTGGTTTGAGTTTCTGCTGGAGGAG[G/T]CACTGTTGGAGAAACATCTGCGCAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611351 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
INTS8 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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INTS8 - integrator complex subunit 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017864.3 | 236 | Missense Mutation | GCA,TCA | A,S 32 | NP_060334.2 | |
XM_017013616.1 | 236 | Missense Mutation | GCA,TCA | A,S 32 | XP_016869105.1 | |
XM_017013617.1 | 236 | Missense Mutation | GCA,TCA | A,S 32 | XP_016869106.1 | |
XM_017013618.1 | 236 | UTR 5 | XP_016869107.1 | |||
XM_017013619.1 | 236 | UTR 5 | XP_016869108.1 |