Product Details

SNP ID
rs187123741
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:40472745 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGGAGCAGCCGGCTGCGTCCACC[A/G]CAGCGGCCTCGCTCTTTGAGTGCTC
Phenotype
MIM: 600941 MIM: 606214
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BLVRB PubMed Links

Gene Details

Gene
BLVRB
Gene Name
biliverdin reductase B
There are no transcripts associated with this gene.

Gene
SPTBN4
Gene Name
spectrin beta, non-erythrocytic 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020971.2 292 Missense Mutation ACA,GCA T42A NP_066022.2
NM_025213.2 292 Intron NP_079489.2
XM_011527173.2 292 Missense Mutation ACA,GCA T42A XP_011525475.1
XM_017027049.1 292 Missense Mutation ACA,GCA T42A XP_016882538.1
XM_017027050.1 292 UTR 5 XP_016882539.1
XM_017027051.1 292 Missense Mutation ACA,GCA T42A XP_016882540.1
XM_017027052.1 292 Missense Mutation ACA,GCA T42A XP_016882541.1

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