Product Details

SNP ID

rs139888900

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:33499249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAGTTCACCACTTTTCTGTCTTCA[C/T]AGCTTTGGGGAATTTTGGCCAGGAG

Phenotype

MIM: 614426

Polymorphism

C/T, Transition 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	1977	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	1977	Missense Mutation	TAT,TGT	Y484C	NP_001095871.1
NM_001265581.1	1977	Missense Mutation	TAT,TGT	Y484C	NP_001252510.1
NM_025115.3	1977	Missense Mutation	TAT,TGT	Y484C	NP_079391.2
XM_011544665.2	1977	Missense Mutation	TAT,TGT	Y453C	XP_011542967.1

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