Product Details

SNP ID
rs143727058
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:120019215 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGAGATTCTAAGTCCATCATCA[C/T]GTGTCGGGTGTCCCTTCTGGATGGT
Phenotype
MIM: 611730
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EPB41L5 PubMed Links

Gene Details

Gene
EPB41L5
Gene Name
erythrocyte membrane protein band 4.1 like 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184937.1 322 Missense Mutation ACG,ATG T44M NP_001171866.1
NM_020909.3 322 Missense Mutation ACG,ATG T44M NP_065960.2
XM_006712651.1 322 Missense Mutation ACG,ATG T44M XP_006712714.1
XM_006712652.1 322 Missense Mutation ACG,ATG T44M XP_006712715.1
XM_006712653.1 322 UTR 5 XP_006712716.1
XM_011511529.2 322 Missense Mutation ACG,ATG T44M XP_011509831.1
XM_017004567.1 322 Missense Mutation ACG,ATG T44M XP_016860056.1
XM_017004568.1 322 UTR 5 XP_016860057.1

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