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CCAGAAGCACCACTTTCGTCTTGAG[C/T]GATGCTTATTTAGTGCAATATCTTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607351 | ||||||||||||||||||||
Literature Links: |
RHOBTB1 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 |
RHOBTB1 - Rho related BTB domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242359.1 | 2351 | Missense Mutation | CAC,CGC | H,R 681 | NP_001229288.1 | |
NM_014836.4 | 2351 | Missense Mutation | CAC,CGC | H,R 681 | NP_055651.1 | |
XM_006718084.1 | 2351 | Missense Mutation | CAC,CGC | H,R 681 | XP_006718147.1 | |
XM_006718085.1 | 2351 | Missense Mutation | CAC,CGC | H,R 681 | XP_006718148.1 | |
XM_011540424.1 | 2351 | Missense Mutation | CAC,CGC | H,R 681 | XP_011538726.1 | |
XM_011540425.1 | 2351 | UTR 3 | XP_011538727.1 | |||
XM_011540426.1 | 2351 | Intron | XP_011538728.1 | |||
XM_011540428.1 | 2351 | Intron | XP_011538730.1 | |||
XM_017017000.1 | 2351 | Missense Mutation | CAC,CGC | H,R 681 | XP_016872489.1 | |
XM_017017001.1 | 2351 | Missense Mutation | CAC,CGC | H,R 681 | XP_016872490.1 | |
XM_017017002.1 | 2351 | UTR 3 | XP_016872491.1 | |||
XM_017017003.1 | 2351 | Missense Mutation | CAC,CGC | H,R 561 | XP_016872492.1 | |
XM_017017004.1 | 2351 | Missense Mutation | CAC,CGC | H,R 561 | XP_016872493.1 | |
XM_017017005.1 | 2351 | Missense Mutation | CAC,CGC | H,R 561 | XP_016872494.1 | |
XM_017017006.1 | 2351 | Missense Mutation | CAC,CGC | H,R 561 | XP_016872495.1 | |
XM_017017007.1 | 2351 | Missense Mutation | CAC,CGC | H,R 561 | XP_016872496.1 | |
XM_017017008.1 | 2351 | Missense Mutation | CAC,CGC | H,R 561 | XP_016872497.1 |