Product Details

SNP ID
rs145055572
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:39187303 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACAGTAGCACATCTGCGGGGAACT[C/T]TCTCAGGTACCATTTTTGCTTTCAG
Phenotype
MIM: 605296
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BRWD1 PubMed Links

Gene Details

Gene
BRWD1
Gene Name
bromodomain and WD repeat domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001007246.2 6981 Intron NP_001007247.1
NM_018963.4 6981 Missense Mutation AAA,AGA K2229R NP_061836.2
NM_033656.3 6981 UTR 3 NP_387505.1
XM_011529611.1 6981 Missense Mutation AAA,AGA K2181R XP_011527913.1
XM_011529612.2 6981 Missense Mutation AAA,AGA K1949R XP_011527914.1
XM_011529613.1 6981 Missense Mutation AAA,AGA K1240R XP_011527915.1
XM_017028373.1 6981 Missense Mutation AAA,AGA K2142R XP_016883862.1
XM_017028374.1 6981 Missense Mutation AAA,AGA K1240R XP_016883863.1
XM_017028375.1 6981 Intron XP_016883864.1
Gene
PSMG1
Gene Name
proteasome assembly chaperone 1
There are no transcripts associated with this gene.

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