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SNP ID

rs11556275

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:41260708 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGGACAAGAAGTTAGTCCTAAAG[C/T]GTACTTCATGAAGCAGACCATTGGG

Phenotype

MIM: 191342

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

UCHL1 PubMed Links

Gene Details

Gene

UCHL1

Gene Name

ubiquitin C-terminal hydrolase L1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004181.4	332	Missense Mutation	GCG,GTG	A79V	NP_004172.2

Gene

UCHL1-AS1

Gene Name

UCHL1 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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