Product Details

SNP ID

rs621302

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:2666085 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTATAATGTACTATCAATATTTTCA[C/T]ATTTTTATAAATTTGAATAATACAT

Phenotype

MIM: 614982

Polymorphism

C/T, 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		Intron			NP_056110.2
XM_011525642.1		Intron			XP_011523944.1
XM_011525643.2		Intron			XP_011523945.1
XM_011525644.2		Intron			XP_011523946.1
XM_017025684.1		Intron			XP_016881173.1

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