Product Details

SNP ID
rs202014280
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:34480931 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTTCTTCAGGAGATAGAAGCAGG[A/T]CTCGTACAAATTCCCATAGATGAGA
Phenotype
MIM: 115500 MIM: 605169
Polymorphism
A/T, 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_001243080.1 536 Missense Mutation GAC,GTC D76V NP_001230009.1
NM_001243081.1 536 Missense Mutation GAC,GTC D103V NP_001230010.1
NM_001422.3 536 Missense Mutation GAC,GTC D171V NP_001413.1
NM_198381.1 536 Missense Mutation GAC,GTC D181V NP_938195.1
XM_017017308.1 536 Missense Mutation GAC,GTC D154V XP_016872797.1
XM_017017309.1 536 Missense Mutation GAC,GTC D148V XP_016872798.1

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