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Search Thermo Fisher Scientific
CTGGAGTTGCACCCCATTTCTTAAC[C/T]GCCTCTGGCGTTCTTCCATTTCCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 602923 MIM: 611750 | ||||||||||||||||||||
Literature Links: |
RBBP4 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 |
RBBP4 - RB binding protein 4, chromatin remodeling factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135255.1 | 5980 | UTR 3 | NP_001128727.1 | |||
NM_001135256.1 | 5980 | UTR 3 | NP_001128728.1 | |||
NM_005610.2 | 5980 | UTR 3 | NP_005601.1 |
SYNC - syncoilin, intermediate filament protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001161708.1 | 5980 | Missense Mutation | CAG,CGG | Q,R 423 | NP_001155180.1 | |
NM_030786.2 | 5980 | Missense Mutation | CAG,CGG | Q,R 423 | NP_110413.2 |