Product Details

SNP ID
rs189131281
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:70361427 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCCTGGCTTCCTAGGAAACCACA[C/G]CTTCTCCAGGGAGTCTATGCCATGG
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DDX19A PubMed Links

Gene Details

Gene
DDX19A
Gene Name
DEAD-box helicase 19A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320522.1 330 Intron NP_001307451.1
NM_001320525.1 330 Missense Mutation CAC,CAG H11Q NP_001307454.1
NM_001320526.1 330 UTR 5 NP_001307455.1
NM_001320527.1 330 UTR 5 NP_001307456.1
NM_018332.4 330 Missense Mutation CAC,CAG H101Q NP_060802.1

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