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Search Thermo Fisher Scientific
CCCCAAAGGAACTTTAAATCTGTTT[C/T]GTGCCTAAGAGGGAAAGAAAAAATG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 606837 | ||||||||||||||||||||
Literature Links: |
RB1CC1 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 |
RB1CC1 - RB1 inducible coiled-coil 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001083617.1 | 5511 | Missense Mutation | CAA,CGA | Q,R 1568 | NP_001077086.1 | |
NM_014781.4 | 5511 | Missense Mutation | CAA,CGA | Q,R 1571 | NP_055596.3 | |
XM_011517643.2 | 5511 | Missense Mutation | CAA,CGA | Q,R 1571 | XP_011515945.1 | |
XM_011517644.2 | 5511 | Intron | XP_011515946.1 | |||
XM_011517645.1 | 5511 | Intron | XP_011515947.1 | |||
XM_011517646.2 | 5511 | Missense Mutation | CAA,CGA | Q,R 1519 | XP_011515948.1 | |
XM_011517647.2 | 5511 | Intron | XP_011515949.1 | |||
XM_011517649.2 | 5511 | Intron | XP_011515951.1 | |||
XM_017014103.1 | 5511 | Missense Mutation | CAA,CGA | Q,R 1578 | XP_016869592.1 | |
XM_017014104.1 | 5511 | Missense Mutation | CAA,CGA | Q,R 1578 | XP_016869593.1 | |
XM_017014105.1 | 5511 | Missense Mutation | CAA,CGA | Q,R 1575 | XP_016869594.1 | |
XM_017014106.1 | 5511 | Intron | XP_016869595.1 | |||
XM_017014107.1 | 5511 | Missense Mutation | CAA,CGA | Q,R 1568 | XP_016869596.1 | |
XM_017014108.1 | 5511 | Intron | XP_016869597.1 | |||
XM_017014109.1 | 5511 | Missense Mutation | CAA,CGA | Q,R 1526 | XP_016869598.1 | |
XM_017014110.1 | 5511 | Missense Mutation | CAA,CGA | Q,R 1035 | XP_016869599.1 | |
XM_017014111.1 | 5511 | Missense Mutation | CAA,CGA | Q,R 1028 | XP_016869600.1 | |
XM_017014112.1 | 5511 | Missense Mutation | CAA,CGA | Q,R 1025 | XP_016869601.1 |