Product Details

SNP ID

rs117419466

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42562647 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGGCCGTATTCCGGTCGGGTCTC[C/T]TGGTGCTGACGACGCCGCTGGCCTC

Phenotype

MIM: 609855 MIM: 109684 MIM: 602976 MIM: 608665

Polymorphism

C/T, 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	378	Silent Mutation	CTG,TTG	L9L	NP_001035994.1
NM_001042532.3	378	Silent Mutation	CTG,TTG	L38L	NP_001035997.2
NM_025233.6	378	Silent Mutation	CTG,TTG	L9L	NP_079509.5
XM_006722116.3	378	Silent Mutation	CTG,TTG	L38L	XP_006722179.1
XM_011525300.1	378	Silent Mutation	CTG,TTG	L9L	XP_011523602.1
XM_017025167.1	378	Silent Mutation	CTG,TTG	L9L	XP_016880656.1
XM_017025168.1	378	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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