Product Details

SNP ID
rs201547431
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:31534290 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTACAGGTTCTACCCTTTATATAC[C/T]GGGCCATAGGCTCAAAGCATCTTCC
Phenotype
MIM: 608828
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C5orf22 PubMed Links

Gene Details

Gene
C5orf22
Gene Name
chromosome 5 open reading frame 22
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018356.2 407 Missense Mutation CGG,TGG R34W NP_060826.2
XM_006714479.2 407 UTR 5 XP_006714542.1
XM_006714480.3 407 UTR 5 XP_006714543.1
XM_011514062.2 407 Missense Mutation CGG,TGG R34W XP_011512364.1
XM_017009607.1 407 Missense Mutation CGG,TGG R34W XP_016865096.1
XM_017009608.1 407 Missense Mutation CGG,TGG R34W XP_016865097.1
XM_017009609.1 407 UTR 5 XP_016865098.1
XM_017009610.1 407 UTR 5 XP_016865099.1
XM_017009611.1 407 UTR 5 XP_016865100.1
XM_017009612.1 407 UTR 5 XP_016865101.1
XM_017009613.1 407 UTR 5 XP_016865102.1
XM_017009614.1 407 UTR 5 XP_016865103.1
XM_017009615.1 407 UTR 5 XP_016865104.1
XM_017009616.1 407 UTR 5 XP_016865105.1
Gene
DROSHA
Gene Name
drosha ribonuclease III
There are no transcripts associated with this gene.

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