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SNP ID

rs143042938

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:122795401 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTTCGTTCAGGGCCTGGTCTGGA[A/G]CACCTGGGGTCCCATCCAGAACTCG

Phenotype

MIM: 602773 MIM: 608263

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DIRC2 PubMed Links

Gene Details

Gene

DIRC2

Gene Name

disrupted in renal carcinoma 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032839.2	348	Missense Mutation	AAC,AGC	N70S	NP_116228.1

Gene

HSPBAP1

Gene Name

HSPB1 associated protein 1

There are no transcripts associated with this gene.

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