Product Details

SNP ID
rs148226418
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:43235551 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCATCGTGCAGCAGAGACTGGGC[A/C]CTCAGGTTCACTTTGAGGTCCTTGA
Phenotype
MIM: 177070 MIM: 603805
Polymorphism
A/C, Transversion 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_004245.3 846 Missense Mutation AGG,AGT R462S NP_004236.1
NM_201631.3 846 Missense Mutation AGG,AGT R544S NP_963925.2
XM_011522230.2 846 Missense Mutation AGG,AGT R201S XP_011520532.1
XM_017022729.1 846 Missense Mutation AGG,AGT R201S XP_016878218.1

View Full Product Details