Product Details

SNP ID

rs75782551

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42567233 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGGCTCGTGCACGTAGGGGGGCC[A/G]GAAGACGAGGGGCTTCCCTCCTGTC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042529.2	151	Intron			NP_001035994.1
NM_001042532.3	151	Intron			NP_001035997.2
NM_025233.6	151	Intron			NP_079509.5
XM_006722116.3	151	Intron			XP_006722179.1
XM_011525300.1	151	Intron			XP_011523602.1
XM_017025167.1	151	Intron			XP_016880656.1
XM_017025168.1	151	Intron			XP_016880657.1

Gene

MLX

Gene Name

MLX, MAX dimerization protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_170607.2	151	Missense Mutation	AGA,GGA	R37G	NP_733752.1
NM_198204.1	151	Intron			NP_937847.1
NM_198205.1	151	Intron			NP_937848.1
XM_017024991.1	151	Missense Mutation	AGA,GGA	R37G	XP_016880480.1

Gene

PSMC3IP

Gene Name

PSMC3 interacting protein

There are no transcripts associated with this gene.

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