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GAATTTGATCTGTCCGACCCCCTAG[C/G]CCTTAAGAAAGATCTTCCAGCCCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608685 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RIBC2 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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RIBC2 - RIB43A domain with coiled-coils 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015653.4 | 386 | Missense Mutation | GCC,GGC | A,G 122 | NP_056468.3 | |
XM_005261524.4 | 386 | Missense Mutation | GCC,GGC | A,G 49 | XP_005261581.1 | |
XM_011530126.2 | 386 | Intron | XP_011528428.1 | |||
XM_017028766.1 | 386 | Missense Mutation | GCC,GGC | A,G 122 | XP_016884255.1 |
SMC1B - structural maintenance of chromosomes 1B | ||||||
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There are no transcripts associated with this gene. |