Product Details

SNP ID

rs111033422

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:150972703 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAAATGATTTTCTTCTGTTGGCT[T/G]GGCATGATGAGAAACGGCTTCTGTG

Phenotype

MIM: 606397

Polymorphism

T/G, Transversion substitution

Allele Nomenclature

Literature Links

CLRN1 PubMed Links

Gene Details

Gene

CLRN1

Gene Name

clarin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195794.1	297	Silent Mutation	CCA,CCC	P2P	NP_001182723.1
NM_001256819.1	297	Silent Mutation	CCA,CCC	P2P	NP_001243748.1
NM_052995.2	297	Intron			NP_443721.1
NM_174878.2	297	Silent Mutation	CCA,CCC	P2P	NP_777367.1

Gene

CLRN1-AS1

Gene Name

CLRN1 antisense RNA 1

There are no transcripts associated with this gene.

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