Product Details

SNP ID
rs200247864
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:5994929 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCGTCTGGGCCCGCCTCGCTGCCA[C/T]GCTGCTCATCGCCCATGTCATCTGC
Phenotype
MIM: 142765
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LOC100128568 PubMed Links

Gene Details

Gene
LOC100128568
Gene Name
uncharacterized LOC100128568
There are no transcripts associated with this gene.

Gene
RFX2
Gene Name
regulatory factor X2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000635.3 2122 Missense Mutation CAT,CGT H693R NP_000626.2
NM_134433.2 2122 Missense Mutation CAT,CGT H668R NP_602309.1
XM_011528171.2 2122 Missense Mutation CAT,CGT H693R XP_011526473.1
XM_011528172.1 2122 UTR 3 XP_011526474.1
XM_017027107.1 2122 Missense Mutation CAT,CGT H648R XP_016882596.1
XM_017027108.1 2122 Missense Mutation CAT,CGT H623R XP_016882597.1

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