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SNP ID: rs2664558
Assay Type: Validated
NCBI dbSNP Submissions: NA
Location: Chr.20:50124008 on Build GRCh38
Set Membership: HapMap Validated
Context Sequence [VIC/FAM]: ACCCAATCCCCTCCAAAAGGCTTTG[A/G]AGCAGATGTCAACATTAATTCACTG
Phenotype: MIM: 610994 MIM: 602995
Polymorphism: A/G, 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	2024	UTR 3			NP_001155977.1
NM_199129.2	2024	UTR 3			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	2024	Intron			NP_954673.1

Gene: UBE2V1
Gene Name: ubiquitin conjugating enzyme E2 V1

There are no transcripts associated with this gene.

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