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TGCTTGGCGAATGTTGAGGGTGTCC[C/T]GGAGCATCAAATCTCGAAGGCGCCA
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 606083 | |||||||||||||||||||||||
Literature Links: |
PBRM1 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
|
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 |
PBRM1 - polybromo 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018313.4 | 5228 | Missense Mutation | CAG,CGG | Q,R 1568 | NP_060783.3 | |
XM_005265279.4 | 5228 | Missense Mutation | CAG,CGG | Q,R 1690 | XP_005265336.1 | |
XM_005265280.3 | 5228 | Missense Mutation | CAG,CGG | Q,R 1690 | XP_005265337.1 | |
XM_005265282.3 | 5228 | Missense Mutation | CAG,CGG | Q,R 1690 | XP_005265339.1 | |
XM_005265283.3 | 5228 | Missense Mutation | CAG,CGG | Q,R 1690 | XP_005265340.1 | |
XM_011533900.2 | 5228 | Missense Mutation | CAG,CGG | Q,R 1711 | XP_011532202.1 | |
XM_011533902.2 | 5228 | Missense Mutation | CAG,CGG | Q,R 1711 | XP_011532204.1 | |
XM_011533903.2 | 5228 | Missense Mutation | CAG,CGG | Q,R 1711 | XP_011532205.1 | |
XM_017006725.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1720 | XP_016862214.1 | |
XM_017006726.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1720 | XP_016862215.1 | |
XM_017006727.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1720 | XP_016862216.1 | |
XM_017006728.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1720 | XP_016862217.1 | |
XM_017006729.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1719 | XP_016862218.1 | |
XM_017006730.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1717 | XP_016862219.1 | |
XM_017006731.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1717 | XP_016862220.1 | |
XM_017006732.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1710 | XP_016862221.1 | |
XM_017006733.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1707 | XP_016862222.1 | |
XM_017006734.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1707 | XP_016862223.1 | |
XM_017006735.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1705 | XP_016862224.1 | |
XM_017006736.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1704 | XP_016862225.1 | |
XM_017006737.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1699 | XP_016862226.1 | |
XM_017006738.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1699 | XP_016862227.1 | |
XM_017006739.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1699 | XP_016862228.1 | |
XM_017006740.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1699 | XP_016862229.1 | |
XM_017006741.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1696 | XP_016862230.1 | |
XM_017006742.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1696 | XP_016862231.1 | |
XM_017006743.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1695 | XP_016862232.1 | |
XM_017006744.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1693 | XP_016862233.1 | |
XM_017006745.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1690 | XP_016862234.1 | |
XM_017006746.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1690 | XP_016862235.1 | |
XM_017006747.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1688 | XP_016862236.1 | |
XM_017006748.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1675 | XP_016862237.1 | |
XM_017006749.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1675 | XP_016862238.1 | |
XM_017006750.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1675 | XP_016862239.1 | |
XM_017006751.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1671 | XP_016862240.1 | |
XM_017006752.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1668 | XP_016862241.1 | |
XM_017006753.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1665 | XP_016862242.1 | |
XM_017006754.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1659 | XP_016862243.1 | |
XM_017006755.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1641 | XP_016862244.1 | |
XM_017006756.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1640 | XP_016862245.1 | |
XM_017006757.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1620 | XP_016862246.1 | |
XM_017006758.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1620 | XP_016862247.1 | |
XM_017006759.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1616 | XP_016862248.1 | |
XM_017006760.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1604 | XP_016862249.1 | |
XM_017006761.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1604 | XP_016862250.1 | |
XM_017006762.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1603 | XP_016862251.1 | |
XM_017006763.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1601 | XP_016862252.1 | |
XM_017006764.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1589 | XP_016862253.1 | |
XM_017006765.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1568 | XP_016862254.1 | |
XM_017006766.1 | 5228 | Missense Mutation | CAG,CGG | Q,R 1564 | XP_016862255.1 |
SMIM4 - small integral membrane protein 4 | ||||||
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There are no transcripts associated with this gene. |