Product Details

SNP ID

rs665268

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.17:42570011 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TATGAGCAGATTGTGAAGGCACACC[A/G]GGACAACCCCCATGAAGGGGAGGAC

Phenotype

MIM: 609855 MIM: 616498 MIM: 602976 MIM: 608665

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COASY PubMed Links

Gene Details

Gene

COASY

Gene Name

Coenzyme A synthase

There are no transcripts associated with this gene.

Gene

FAM134C

Gene Name

family with sequence similarity 134 member C

There are no transcripts associated with this gene.

Gene

MLX

Gene Name

MLX, MAX dimerization protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_170607.2	571	Missense Mutation	CAG,CGG	Q223R	NP_733752.1
NM_198204.1	571	Missense Mutation	CAG,CGG	Q169R	NP_937847.1
NM_198205.1	571	Missense Mutation	CAG,CGG	Q139R	NP_937848.1
XM_017024991.1	571	Missense Mutation	CAG,CGG	Q193R	XP_016880480.1

Gene

PSMC3IP

Gene Name

PSMC3 interacting protein

There are no transcripts associated with this gene.

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