Product Details

SNP ID
rs140887409
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:47084589 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGGGAAGGTGGATCCCGCCGGGA[A/G]GTACTTTGCTGGTAAGATTTCTCTT
Phenotype
MIM: 300212
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RGN PubMed Links

Gene Details

Gene
RGN
Gene Name
regucalcin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282848.1 1325 Missense Mutation AAG,AGG K59R NP_001269777.1
NM_001282849.1 1325 Missense Mutation AAG,AGG K112R NP_001269778.1
NM_004683.5 1325 Missense Mutation AAG,AGG K112R NP_004674.1
NM_152869.3 1325 Missense Mutation AAG,AGG K112R NP_690608.1
XM_006724567.2 1325 Missense Mutation AAG,AGG K112R XP_006724630.1
XM_006724568.2 1325 Missense Mutation AAG,AGG K112R XP_006724631.1
XM_017029954.1 1325 Missense Mutation AAG,AGG K112R XP_016885443.1

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