Product Details

SNP ID

rs58846152

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:188734646 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGTTTAATATTTTCCACCCCCTC[A/G]ATGAGTTAAGACACTTTAGCCTCAC

Phenotype

MIM: 606423

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DIRC1 PubMed Links

Gene Details

Gene

DIRC1

Gene Name

disrupted in renal carcinoma 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052952.2	546	Missense Mutation	TCG,TTG	S92L	NP_443184.1
XM_017003281.1	546	Missense Mutation	TCG,TTG	S92L	XP_016858770.1

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