Product Details

SNP ID
rs148224073
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:49776114 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCACCTTCAGAGGCTCCAGCACC[A/G]AGGCGGCGGCATCAGTGGAGATCCA
Phenotype
MIM: 604589
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BRD1 PubMed Links

Gene Details

Gene
BRD1
Gene Name
bromodomain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304808.1 2245 Missense Mutation TCG,TTG S1056L NP_001291737.1
NM_001304809.1 2245 Missense Mutation TCG,TTG S925L NP_001291738.1
XM_011530073.1 2245 Missense Mutation TCG,TTG S651L XP_011528375.1
XM_017028714.1 2245 Missense Mutation TCG,TTG S1054L XP_016884203.1
XM_017028715.1 2245 Missense Mutation TCG,TTG S1056L XP_016884204.1
XM_017028716.1 2245 Missense Mutation TCG,TTG S1056L XP_016884205.1
XM_017028717.1 2245 Missense Mutation TCG,TTG S1056L XP_016884206.1
XM_017028718.1 2245 Missense Mutation TCG,TTG S890L XP_016884207.1
XM_017028719.1 2245 Intron XP_016884208.1
XM_017028720.1 2245 Intron XP_016884209.1
XM_017028721.1 2245 Intron XP_016884210.1
XM_017028722.1 2245 Missense Mutation TCG,TTG S669L XP_016884211.1
XM_017028723.1 2245 Missense Mutation TCG,TTG S510L XP_016884212.1

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