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SNP ID

rs73291848

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18316143 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCTACCCCAAGCTGAACTTCGT[C/G]GAGGACTCCAAGGTGGTGCTGGGAG

Phenotype

MIM: 601243

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SMCR8 PubMed Links

Gene Details

Gene

SMCR8

Gene Name

Smith-Magenis syndrome chromosome region, candidate 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144775.2	864	Silent Mutation	GTC,GTG	V118V	NP_658988.2

Gene

TOP3A

Gene Name

topoisomerase (DNA) III alpha

There are no transcripts associated with this gene.

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