Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGAAGGAAACTATGTATCTTTAACT[A/G]GAATCCTGAAATGTTCAGAGCAGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 180203 | ||||||||||||||||||||
Literature Links: |
RBL2 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 |
RBL2 - RB transcriptional corepressor like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001323608.1 | 483 | Missense Mutation | AGA,GGA | R,G 116 | NP_001310537.1 | |
NM_001323609.1 | 483 | Missense Mutation | AGA,GGA | R,G 116 | NP_001310538.1 | |
NM_001323610.1 | 483 | Missense Mutation | AGA,GGA | R,G 116 | NP_001310539.1 | |
NM_001323611.1 | 483 | Missense Mutation | AGA,GGA | R,G 42 | NP_001310540.1 | |
NM_005611.3 | 483 | Missense Mutation | AGA,GGA | R,G 116 | NP_005602.3 | |
XM_011523253.2 | 483 | Intron | XP_011521555.1 | |||
XM_017023513.1 | 483 | Intron | XP_016879002.1 |