Product Details

SNP ID

rs147400711

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42568554 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCACCAGTGCCTCTTCTGTCCCCA[A/G]CACAGGTAGGCAGTAACATCCCCCC

Phenotype

MIM: 609855 MIM: 602976 MIM: 608665

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

COASY PubMed Links

Additional Information

For this assay, SNP(s) [rs646123] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

COASY

Gene Name

Coenzyme A synthase

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	229	Missense Mutation	AAC,AGC	N109S	NP_733752.1
NM_198204.1	229	Missense Mutation	AAC,AGC	N55S	NP_937847.1
NM_198205.1	229	Intron			NP_937848.1
XM_017024991.1	229	Intron			XP_016880480.1

Gene

PSMC3IP

Gene Name

PSMC3 interacting protein

There are no transcripts associated with this gene.

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