Product Details

SNP ID
rs146441077
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.18:2656122 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCCTGGTGGGGCCTCTGTGGGGA[C/G]TGAGGAGGATGGCGGAGGCGTCGGC
Phenotype
MIM: 614982
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
CBX3P2 PubMed Links

Gene Details

Gene
CBX3P2
Gene Name
chromobox 3 pseudogene 2
There are no transcripts associated with this gene.

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_015295.2 236 Missense Mutation ACT,AGT T16S NP_056110.2
XM_011525642.1 236 Missense Mutation ACT,AGT T16S XP_011523944.1
XM_011525643.2 236 Missense Mutation ACT,AGT T16S XP_011523945.1
XM_011525644.2 236 UTR 5 XP_011523946.1
XM_017025684.1 236 UTR 5 XP_016881173.1

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