Product Details

SNP ID
rs142591640
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:36998809 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATCCTGTAGTCGTTTCAGTAAAA[C/T]GTCATCATTTTCTTGACAGACGCGT
Phenotype
MIM: 116957
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RBL1 PubMed Links

Gene Details

Gene
RBL1
Gene Name
RB transcriptional corepressor like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323281.1 3055 Missense Mutation ATT,GTT I626V NP_001310210.1
NM_001323282.1 3055 Missense Mutation ATT,GTT I626V NP_001310211.1
NM_002895.4 3055 Missense Mutation ATT,GTT I1053V NP_002886.2
NM_183404.3 3055 Intron NP_899662.1
XM_006723842.2 3055 Missense Mutation ATT,GTT I881V XP_006723905.1
XM_011528955.2 3055 Missense Mutation ATT,GTT I998V XP_011527257.1
XM_011528958.2 3055 Intron XP_011527260.1
XM_017027992.1 3055 Missense Mutation ATT,GTT I949V XP_016883481.1

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