Product Details

SNP ID

rs139280028

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:50128031 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGACGTGGTGGATGCGATGGTGT[C/T]TACGTGGCAGGATGACATGCCAGTC

Phenotype

MIM: 610994

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TMEM189 PubMed Links

Gene Details

Gene

TMEM189

Gene Name

transmembrane protein 189

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001162505.1	796	Missense Mutation	AAA,AGA	K209R	NP_001155977.1
NM_199129.2	796	Missense Mutation	AAA,AGA	K212R	NP_954580.1

Gene

TMEM189-UBE2V1

Gene Name

TMEM189-UBE2V1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_199203.2	796	Missense Mutation	AAA,AGA	K212R	NP_954673.1

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