Product Details

SNP ID

rs73598395

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:50082842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTAGACATCATTAGGCGCCGAA[A/G]CTCTTGCAGGACAACTTTGATGCTA

Phenotype

MIM: 602995

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TMEM189-UBE2V1 PubMed Links

Gene Details

Gene

TMEM189-UBE2V1

Gene Name

TMEM189-UBE2V1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_199203.2	746	Missense Mutation	CTT,TTT	L347F	NP_954673.1

Gene

UBE2V1

Gene Name

ubiquitin conjugating enzyme E2 V1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001032288.2	746	Missense Mutation	CTT,TTT	L124F	NP_001027459.1
NM_001257393.1	746	Missense Mutation	CTT,TTT	L147F	NP_001244322.1
NM_001257394.1	746	Missense Mutation	CTT,TTT	L80F	NP_001244323.1
NM_001257395.1	746	Missense Mutation	CTT,TTT	L121F	NP_001244324.1
NM_001257396.1	746	Missense Mutation	CTT,TTT	L82F	NP_001244325.1
NM_001257397.1	746	Missense Mutation	CTT,TTT	L82F	NP_001244326.1
NM_001257398.1	746	Missense Mutation	CTT,TTT	L82F	NP_001244327.1
NM_001257399.1	746	Missense Mutation	CTT,TTT	L82F	NP_001244328.1
NM_001282575.2	746	Missense Mutation	CTT,TTT	L68F	NP_001269504.1
NM_001282576.1	746	Missense Mutation	CTT,TTT	L82F	NP_001269505.1
NM_001282577.2	746	Missense Mutation	CTT,TTT	L68F	NP_001269506.1
NM_001282578.2	746	Missense Mutation	CTT,TTT	L68F	NP_001269507.1
NM_001282579.1	746	Missense Mutation	CTT,TTT	L82F	NP_001269508.1
NM_001282580.1	746	Intron			NP_001269509.1
NM_021988.5	746	Missense Mutation	CTT,TTT	L147F	NP_068823.2
NM_022442.5	746	Missense Mutation	CTT,TTT	L80F	NP_071887.1
NM_199144.2	746	Missense Mutation	CTT,TTT	L147F	NP_954595.1

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