Product Details

SNP ID
rs202163383
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:34480312 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCAAAATTCCTGTTTTATAGTAG[C/T]ATCTGAAAAAGCAAGCAGAAGAGAA
Phenotype
MIM: 115500 MIM: 605169
Polymorphism
C/T, Transition 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_001243080.1 698 Missense Mutation TAC,TGC Y130C NP_001230009.1
NM_001243081.1 698 Missense Mutation TAC,TGC Y157C NP_001230010.1
NM_001422.3 698 Missense Mutation TAC,TGC Y225C NP_001413.1
NM_198381.1 698 Missense Mutation TAC,TGC Y235C NP_938195.1
XM_017017308.1 698 Missense Mutation TAC,TGC Y208C XP_016872797.1
XM_017017309.1 698 Missense Mutation TAC,TGC Y202C XP_016872798.1

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