Product Details

SNP ID: rs200521548
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.18:2666870 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTATGATTTTCACTCTTGATTACAG[A/G]TGAAACTGTTAAAGATGGAGTCACC
Phenotype: MIM: 614982
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: SMCHD1 PubMed Links

Gene Details

Gene: SMCHD1
Gene Name: structural maintenance of chromosomes flexible hinge domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015295.2	452	Missense Mutation	GAT,GGT	D88G	NP_056110.2
XM_011525642.1	452	Missense Mutation	GAT,GGT	D88G	XP_011523944.1
XM_011525643.2	452	Missense Mutation	GAT,GGT	D88G	XP_011523945.1
XM_011525644.2	452	UTR 5			XP_011523946.1
XM_017025684.1	452	UTR 5			XP_016881173.1