Product Details

SNP ID
rs200229745
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:43233641 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTCCGAGAGGGGGTTTGAAAAT[A/G]TCACCTGTATGGAGAGTGGCTGGTT
Phenotype
MIM: 177070 MIM: 603805
Polymorphism
A/G, 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 1136 Missense Mutation ACA,ATA T559I NP_004236.1
NM_201631.3 1136 Missense Mutation ACA,ATA T641I NP_963925.2
XM_011522230.2 1136 Missense Mutation ACA,ATA T298I XP_011520532.1
XM_017022729.1 1136 Missense Mutation ACA,ATA T298I XP_016878218.1

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