Product Details

SNP ID
rs140758220
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:80559038 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCATTGCTGATTTCCTTCTGAAA[C/G]ATAAGATTGACAATTTATTTCATCA
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ANKRD34B PubMed Links

Gene Details

Gene
ANKRD34B
Gene Name
ankyrin repeat domain 34B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001004441.2 1412 Missense Mutation CTT,GTT L328V NP_001004441.2
XM_006714599.3 1412 Missense Mutation CTT,GTT L328V XP_006714662.1
XM_011543366.2 1412 Missense Mutation CTT,GTT L328V XP_011541668.1
XM_011543369.2 1412 Missense Mutation CTT,GTT L328V XP_011541671.1

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