Product Details

SNP ID
rs141424928
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:10008245 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAAAGAAGAACAGAGGCTGGACC[C/T]ATTGGATCGAAGGAGACAAACTCCA
Phenotype
MIM: 608604
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RBP7 PubMed Links

Gene Details

Gene
RBP7
Gene Name
retinol binding protein 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_052960.2 387 Missense Mutation CAT,TAT H109Y NP_443192.1

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