Product Details

SNP ID
rs143770491
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:47353268 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAATCTCAAGACCTCCAGGAAGGAG[A/G]AGAAAGACCCTGGACAGCCCAAGCA
Phenotype
MIM: 615475
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DHX34 PubMed Links

Gene Details

Gene
DHX34
Gene Name
DEAH-box helicase 34
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014681.5 536 Missense Mutation AAG,GAG K80E NP_055496.2
XM_005259443.3 536 Missense Mutation AAG,GAG K80E XP_005259500.1
XM_011527550.2 536 Missense Mutation AAG,GAG K80E XP_011525852.1
XM_011527551.2 536 Missense Mutation AAG,GAG K80E XP_011525853.1
XM_017027524.1 536 UTR 5 XP_016883013.1

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