Product Details

SNP ID

rs1279138

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:12069091 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGGCCTCGGCCGGGCTCTCCCTCTC[C/T]TCTGGCGTGGCTACCAGACCGAGCG

Phenotype

MIM: 614984

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DHTKD1 PubMed Links

Gene Details

Gene

DHTKD1

Gene Name

dehydrogenase E1 and transketolase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018706.6	175	Missense Mutation	CTC,TTC	L20F	NP_061176.3

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