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CGACCAATCAGTGATATTGCTTGAC[A/G]GTATTTGTAGATCACTTCAATTGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607363 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KNTC1 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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KNTC1 - kinetochore associated 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014708.4 | 359 | Missense Mutation | AGT,GGT | S,G 72 | NP_055523.1 | |
XM_006719706.2 | 359 | Missense Mutation | AGT,GGT | S,G 72 | XP_006719769.1 | |
XM_011539027.2 | 359 | Missense Mutation | AGT,GGT | S,G 72 | XP_011537329.1 | |
XM_011539029.2 | 359 | Missense Mutation | AGT,GGT | S,G 72 | XP_011537331.1 | |
XM_011539030.1 | 359 | Missense Mutation | AGT,GGT | S,G 72 | XP_011537332.1 | |
XM_017020254.1 | 359 | Missense Mutation | AGT,GGT | S,G 72 | XP_016875743.1 | |
XM_017020255.1 | 359 | UTR 5 | XP_016875744.1 | |||
XM_017020256.1 | 359 | Intron | XP_016875745.1 | |||
XM_017020257.1 | 359 | Missense Mutation | AGT,GGT | S,G 72 | XP_016875746.1 |
RSRC2 - arginine and serine rich coiled-coil 2 | ||||||
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There are no transcripts associated with this gene. |