Product Details

SNP ID

rs143262009

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18316154 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCTGAACTTCGTGGAGGACTCCA[A/G]GGTGGTGCTGGGAGATTCTAAGGAG

Phenotype

MIM: 601243

Polymorphism

A/G, Transition 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	875	Missense Mutation	AAG,AGG	K122R	NP_658988.2

Gene

TOP3A

Gene Name

topoisomerase (DNA) III alpha

There are no transcripts associated with this gene.

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