Product Details

SNP ID
rs140444692
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:34480923 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCCACAGTTTTCTTCAGGAGATA[C/G]AAGCAGGTCTCGTACAAATTCCCAT
Phenotype
MIM: 115500 MIM: 605169
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
CAT PubMed Links

Gene Details

Gene
CAT
Gene Name
catalase
There are no transcripts associated with this gene.

Gene
ELF5
Gene Name
E74 like ETS transcription factor 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243080.1 544 Missense Mutation CTA,GTA L79V NP_001230009.1
NM_001243081.1 544 Missense Mutation CTA,GTA L106V NP_001230010.1
NM_001422.3 544 Missense Mutation CTA,GTA L174V NP_001413.1
NM_198381.1 544 Missense Mutation CTA,GTA L184V NP_938195.1
XM_017017308.1 544 Missense Mutation CTA,GTA L157V XP_016872797.1
XM_017017309.1 544 Missense Mutation CTA,GTA L151V XP_016872798.1

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