Product Details

SNP ID
rs192313727
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.21:38054691 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTATCTGCTTGTCCCTTCTCCCAT[C/G]TGATTTCTTGTGGAGCCCATGGAGG
Phenotype
MIM: 604829
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
DSCR4 PubMed Links

Gene Details

Gene
DSCR4
Gene Name
Down syndrome critical region 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005867.3 418 Missense Mutation CAT,GAT H105D NP_005858.1

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