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GGGACCAGTCTTCCATACTATACCA[C/T]TGGCATCTTTCACAGAAGATTCCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
15 submissions
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Phenotype: |
MIM: 611350 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
INTS7 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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INTS7 - integrator complex subunit 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199809.1 | 2922 | Missense Mutation | AAT,AGT | N,S 865 | NP_001186738.1 | |
NM_001199811.1 | 2922 | Missense Mutation | AAT,AGT | N,S 900 | NP_001186740.1 | |
NM_001199812.1 | 2922 | Missense Mutation | AAT,AGT | N,S 894 | NP_001186741.1 | |
NM_015434.3 | 2922 | Missense Mutation | AAT,AGT | N,S 914 | NP_056249.1 | |
XM_011509396.2 | 2922 | Missense Mutation | AAT,AGT | N,S 950 | XP_011507698.1 | |
XM_017000962.1 | 2922 | Intron | XP_016856451.1 |