Product Details

SNP ID

rs3736497

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:33500476 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGAGGGCCTTCAGTAAGACCACA[A/C]GTCTGCAGGAAACTCTGGAATCAGG

Phenotype

MIM: 614426

Polymorphism

A/C, 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	1800	UTR 3			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	1800	Missense Mutation	CGT,CTT	R425L	NP_001095871.1
NM_001265581.1	1800	Missense Mutation	CGT,CTT	R425L	NP_001252510.1
NM_025115.3	1800	Missense Mutation	CGT,CTT	R425L	NP_079391.2
XM_011544665.2	1800	Missense Mutation	CGT,CTT	R394L	XP_011542967.1

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