Product Details

SNP ID

rs143993891

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18315897 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAGTACTCGGTGCCGCTCTTCCC[C/T]TTCGCCAGTCAGGGTGCTAACCCCT

Phenotype

MIM: 601243

Polymorphism

C/T, 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	618	Silent Mutation	CCC,CCT	P36P	NP_658988.2

Gene

TOP3A

Gene Name

topoisomerase (DNA) III alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320759.1	618	Intron			NP_001307688.1
NM_004618.4	618	Intron			NP_004609.1
XM_011524001.2	618	Intron			XP_011522303.1

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