Product Details

SNP ID
rs201803234
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31473837 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGCTCCCACTCTGCTTCCCAGCA[C/T]GGTATGCAAGCCTCGGTCCCCAAAG
Phenotype
MIM: 615549 MIM: 182381 MIM: 602353
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ARMC5 PubMed Links

Gene Details

Gene
ARMC5
Gene Name
armadillo repeat containing 5
There are no transcripts associated with this gene.

Gene
SLC5A2
Gene Name
solute carrier family 5 member 2
There are no transcripts associated with this gene.

Gene
TGFB1I1
Gene Name
transforming growth factor beta 1 induced transcript 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042454.2 188 Missense Mutation ACG,ATG T62M NP_001035919.1
NM_001164719.1 188 Missense Mutation ACG,ATG T45M NP_001158191.1
NM_015927.4 188 Missense Mutation ACG,ATG T45M NP_057011.2

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