Product Details

SNP ID
rs201497167
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:140525489 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTTTTCGATTTTGGATGAAATGG[C/G]TATTACGACAGATGACTGGGAAGTG
Phenotype
MIM: 610196
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ELMOD2 PubMed Links

Gene Details

Gene
ELMOD2
Gene Name
ELMO domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153702.3 550 Silent Mutation CTA,GTA L21V NP_714913.1
XM_005262885.3 550 Missense Mutation CTA,GTA L33V XP_005262942.1
XM_005262886.2 550 Silent Mutation CTA,GTA L21V XP_005262943.1
XM_011531818.2 550 Missense Mutation CTA,GTA L33V XP_011530120.1
XM_011531819.2 550 Missense Mutation CTA,GTA L21V XP_011530121.1

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