Product Details

SNP ID

rs112894643

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81704312 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCGGCCATCAGAGGTGTGAGGCCC[C/T]CGCTGGTGCACCCCTGGATAACGCC

Phenotype

MIM: 604375 MIM: 602375 MIM: 606794

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HGS PubMed Links

Gene Details

Gene

HGS

Gene Name

hepatocyte growth factor-regulated tyrosine kinase substrate

There are no transcripts associated with this gene.

Gene

MRPL12

Gene Name

mitochondrial ribosomal protein L12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002949.3	275	Missense Mutation	CCC,CTC	P48L	NP_002940.2

Gene

SLC25A10

Gene Name

solute carrier family 25 member 10

There are no transcripts associated with this gene.

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