Product Details

SNP ID
rs200700030
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:17436795 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGGACAACTCATGGAGCCCACGG[A/C]GGGCAGCCCGGGCAGCCCGGAGGAG
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
TMEM221 PubMed Links

Gene Details

Gene
TMEM221
Gene Name
transmembrane protein 221
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190844.1 644 Missense Mutation CGC,CTC R180L NP_001177773.1
XM_011527603.2 644 Missense Mutation CGC,CTC R180L XP_011525905.1

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