Product Details

SNP ID
rs143609015
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:34480932 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTCTTCAGGAGATAGAAGCAGGT[C/G]TCGTACAAATTCCCATAGATGAGAA
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_001243080.1 535 Missense Mutation CAC,GAC H76D NP_001230009.1
NM_001243081.1 535 Missense Mutation CAC,GAC H103D NP_001230010.1
NM_001422.3 535 Missense Mutation CAC,GAC H171D NP_001413.1
NM_198381.1 535 Missense Mutation CAC,GAC H181D NP_938195.1
XM_017017308.1 535 Missense Mutation CAC,GAC H154D XP_016872797.1
XM_017017309.1 535 Missense Mutation CAC,GAC H148D XP_016872798.1

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