Product Details

SNP ID
rs116495228
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:43233682 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGCTGGTTCACAACGGCTGCTCC[C/T]AGAACCTAAACAGACCAGGAGGGGA
Phenotype
MIM: 177070 MIM: 603805
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EPB42 PubMed Links

Gene Details

Gene
EPB42
Gene Name
erythrocyte membrane protein band 4.2
There are no transcripts associated with this gene.

Gene
TGM5
Gene Name
transglutaminase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004245.3 1095 Silent Mutation NP_004236.1
NM_201631.3 1095 Silent Mutation NP_963925.2
XM_011522230.2 1095 Silent Mutation XP_011520532.1
XM_017022729.1 1095 Silent Mutation XP_016878218.1

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