Product Details

SNP ID

rs11539241

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42562684 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGCCGCTGGCCTCCCTAGCCCCTC[A/G]CCTGGCCTCCATCCTGACCTCGGCG

Phenotype

MIM: 609855 MIM: 109684 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	415	Missense Mutation	CAC,CGC	H21R	NP_001035994.1
NM_001042532.3	415	Missense Mutation	CAC,CGC	H50R	NP_001035997.2
NM_025233.6	415	Missense Mutation	CAC,CGC	H21R	NP_079509.5
XM_006722116.3	415	Missense Mutation	CAC,CGC	H50R	XP_006722179.1
XM_011525300.1	415	Missense Mutation	CAC,CGC	H21R	XP_011523602.1
XM_017025167.1	415	Missense Mutation	CAC,CGC	H21R	XP_016880656.1
XM_017025168.1	415	Intron			XP_016880657.1

Gene

HSD17B1

Gene Name

hydroxysteroid 17-beta dehydrogenase 1

There are no transcripts associated with this gene.

Gene

MLX

Gene Name

MLX, MAX dimerization protein

There are no transcripts associated with this gene.

Gene

PSMC3IP

Gene Name

PSMC3 interacting protein

There are no transcripts associated with this gene.

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