Product Details

SNP ID
rs146496912
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:5890778 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGCGCGCCCCGCGCATGCTGCCC[A/T]CTGCGCCGCGGAGGTTGGTCATGCT
Phenotype
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
TMEM200C PubMed Links

Gene Details

Gene
TMEM200C
Gene Name
transmembrane protein 200C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080209.1 1327 Missense Mutation GAG,GTG E429V NP_001073678.1
XM_005258130.4 1327 Missense Mutation GAG,GTG E429V XP_005258187.1
XM_011525729.2 1327 Missense Mutation GAG,GTG E429V XP_011524031.1

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