Product Details

SNP ID
rs201810763
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:34480935 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCAGGAGATAGAAGCAGGTCTC[A/G]TACAAATTCCCATAGATGAGAACTT
Phenotype
MIM: 115500 MIM: 605169
Polymorphism
A/G, 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_001243080.1 532 Nonsense Mutation CGA,TGA R75* NP_001230009.1
NM_001243081.1 532 Nonsense Mutation CGA,TGA R102* NP_001230010.1
NM_001422.3 532 Nonsense Mutation CGA,TGA R170* NP_001413.1
NM_198381.1 532 Nonsense Mutation CGA,TGA R180* NP_938195.1
XM_017017308.1 532 Nonsense Mutation CGA,TGA R153* XP_016872797.1
XM_017017309.1 532 Nonsense Mutation CGA,TGA R147* XP_016872798.1

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