Product Details

SNP ID
rs200505775
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:33498582 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGAAAACGAGCCTATGTGGAAATA[C/G]AATACGAGCAGGAGACAGAGCCCGT
Phenotype
MIM: 614426
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
MAK16 PubMed Links

Gene Details

Gene
MAK16
Gene Name
MAK16 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032509.3 2690 Missense Mutation CAA,GAA Q286E NP_115898.2
Gene
TTI2
Gene Name
TELO2 interacting protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001102401.2 2690 UTR 3 NP_001095871.1
NM_001265581.1 2690 UTR 3 NP_001252510.1
NM_025115.3 2690 UTR 3 NP_079391.2
XM_011544665.2 2690 Intron XP_011542967.1

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