Product Details

SNP ID
rs181045631
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:2666214 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTACAACAACAAGTAGGAAAGAA[A/G]TTACCTGTGATAATTTTGGTAGGTA
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_015295.2 433 Missense Mutation ATT,GTT I82V NP_056110.2
XM_011525642.1 433 Missense Mutation ATT,GTT I82V XP_011523944.1
XM_011525643.2 433 Missense Mutation ATT,GTT I82V XP_011523945.1
XM_011525644.2 433 Intron XP_011523946.1
XM_017025684.1 433 UTR 5 XP_016881173.1

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