Product Details

SNP ID
rs146778713
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:37621215 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTAAAATCAATCCCTCTTGCTAG[C/G]AAGGCTGTACAAATCAGAACCCAGA
Phenotype
MIM: 612500 MIM: 607291
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DDX52 PubMed Links

Gene Details

Gene
DDX52
Gene Name
DEAD-box helicase 52
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291476.1 1457 Missense Mutation TTC,TTG F363L NP_001278405.1
NM_007010.4 1457 Missense Mutation TTC,TTG F471L NP_008941.3
XM_011524232.2 1457 Missense Mutation TTC,TTG F471L XP_011522534.1
XM_011524233.2 1457 Missense Mutation TTC,TTG F231L XP_011522535.1
Gene
MIR378J
Gene Name
microRNA 378j
There are no transcripts associated with this gene.

Gene
SYNRG
Gene Name
synergin, gamma
There are no transcripts associated with this gene.

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