Product Details

SNP ID
rs306548
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:132594894 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AACTTTCTGGGAAGTCTTGCTGTCC[C/T]GCTGTACACCTTTTTGGGTTTTTCT
Phenotype
MIM: 605211 MIM: 616533
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
BARHL1 PubMed Links

Gene Details

Gene
BARHL1
Gene Name
BarH like homeobox 1
There are no transcripts associated with this gene.

Gene
DDX31
Gene Name
DEAD-box helicase 31
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322340.1 2184 Missense Mutation CAG,CGG Q770R NP_001309269.1
NM_001322341.1 2184 Missense Mutation CAG,CGG Q747R NP_001309270.1
NM_001322342.1 2184 Missense Mutation CAG,CGG Q666R NP_001309271.1
NM_001322343.1 2184 Missense Mutation CAG,CGG Q714R NP_001309272.1
NM_001322344.1 2184 Intron NP_001309273.1
NM_022779.8 2184 Missense Mutation CAG,CGG Q843R NP_073616.6
NM_138620.1 2184 Intron NP_619526.1
XM_005272207.4 2184 Missense Mutation CAG,CGG Q747R XP_005272264.1
XM_006717236.3 2184 UTR 3 XP_006717299.1
XM_011518921.2 2184 Intron XP_011517223.1
XM_011518922.2 2184 Intron XP_011517224.1

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