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AAGTCTCTAGAACTCAATCCAAATA[A/T]TTCCACTGCTATGCTGAGAAAAGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604098 | ||||||||||||||||||||
Literature Links: |
SUGT1 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 |
SUGT1 - SGT1 homolog, MIS12 kinetochore complex assembly cochaperone | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130912.2 | 463 | Missense Mutation | AAT,ATT | N,I 78 | NP_001124384.1 | |
NM_001320831.1 | 463 | Missense Mutation | AAT,ATT | N,I 22 | NP_001307760.1 | |
NM_006704.4 | 463 | Missense Mutation | AAT,ATT | N,I 78 | NP_006695.1 | |
XM_011534891.2 | 463 | UTR 5 | XP_011533193.1 | |||
XM_011534893.2 | 463 | UTR 5 | XP_011533195.1 | |||
XM_017020365.1 | 463 | Missense Mutation | AAT,ATT | N,I 78 | XP_016875854.1 | |
XM_017020366.1 | 463 | Missense Mutation | AAT,ATT | N,I 22 | XP_016875855.1 | |
XM_017020367.1 | 463 | Missense Mutation | AAT,ATT | N,I 22 | XP_016875856.1 | |
XM_017020368.1 | 463 | UTR 5 | XP_016875857.1 |