Product Details

SNP ID

rs199497791

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42567648 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTATGCCTACAGCGACAACAGCCT[A/G]GACCCCGGTGAGTAGCTGCCCCATC

Phenotype

MIM: 609855 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

MLX

Gene Name

MLX, MAX dimerization protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_170607.2	137	Silent Mutation	CTA,CTG	L78L	NP_733752.1
NM_198204.1	137	Silent Mutation	CTA,CTG	L24L	NP_937847.1
NM_198205.1	137	Silent Mutation	CTA,CTG	L24L	NP_937848.1
XM_017024991.1	137	Silent Mutation	CTA,CTG	L78L	XP_016880480.1

Gene

PSMC3IP

Gene Name

PSMC3 interacting protein

There are no transcripts associated with this gene.

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