Product Details

SNP ID
rs202171691
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:48991534 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTGGGGTGTCTTCCTCACTGATA[C/G]TGCAAGCTGTGACTTGGTGGTCAGG
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CWH43 PubMed Links

Gene Details

Gene
CWH43
Gene Name
cell wall biogenesis 43 C-terminal homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286791.1 530 Missense Mutation CTG,GTG L79V NP_001273720.1
NM_025087.2 530 Missense Mutation CTG,GTG L106V NP_079363.2
XM_011513755.1 530 Missense Mutation CTG,GTG L106V XP_011512057.1
XM_011513756.2 530 Missense Mutation CTG,GTG L79V XP_011512058.1
XM_011513757.2 530 Missense Mutation CTG,GTG L79V XP_011512059.1
XM_011513758.1 530 Missense Mutation CTG,GTG L106V XP_011512060.1
XM_011513759.1 530 UTR 5 XP_011512061.1

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