Product Details

SNP ID
rs141263113
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:140537414 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAAATAATTTTATCATTTTTAGTT[C/T]TAAAATATGCATGAAGATGTGCTTA
Phenotype
MIM: 610196
Polymorphism
C/T, Transition 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_153702.3 761 Missense Mutation TCT,TTT S91F NP_714913.1
XM_005262885.3 761 Missense Mutation TCT,TTT S103F XP_005262942.1
XM_005262886.2 761 Missense Mutation TCT,TTT S91F XP_005262943.1
XM_011531818.2 761 Missense Mutation TCT,TTT S103F XP_011530120.1
XM_011531819.2 761 Missense Mutation TCT,TTT S91F XP_011530121.1

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