Product Details

SNP ID

rs149849406

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18315802 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATATCTGGAAATATGATCAGCGCC[A/C]CTGACGTAGTGGCCTTCACCAAAGA

Phenotype

MIM: 601243

Polymorphism

A/C, 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	523	Missense Mutation	ACT,CCT	T5P	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	523	Intron			NP_001307688.1
NM_004618.4	523	Intron			NP_004609.1
XM_011524001.2	523	Intron			XP_011522303.1

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