Product Details

SNP ID
rs201373924
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18994380 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGAACATACCTATTTGTTGGCCC[A/G]CTTGTGTCTGTACATCTGCATCATC
Phenotype
MIM: 607993
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SUGP2 PubMed Links

Gene Details

Gene
SUGP2
Gene Name
SURP and G-patch domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001017392.4 3381 Missense Mutation CGG,TGG R1079W NP_001017392.2
NM_001321697.1 3381 Missense Mutation CGG,TGG R1079W NP_001308626.1
NM_001321698.1 3381 Missense Mutation CGG,TGG R1093W NP_001308627.1
NM_001321699.1 3381 Missense Mutation CGG,TGG R1093W NP_001308628.1
NM_014884.4 3381 Missense Mutation CGG,TGG R1079W NP_055699.2
XM_017026137.1 3381 Missense Mutation CGG,TGG R1079W XP_016881626.1

View Full Product Details