Product Details

SNP ID

rs139677858

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42568879 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCACCAGGAGGCCTACAAGGAGT[C/T]CTACAAAGACCGGCGGCGGCGCGCA

Phenotype

MIM: 609855 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

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	277	Missense Mutation	TCC,TTC	S125F	NP_733752.1
NM_198204.1	277	Missense Mutation	TCC,TTC	S71F	NP_937847.1
NM_198205.1	277	Missense Mutation	TCC,TTC	S41F	NP_937848.1
XM_017024991.1	277	Missense Mutation	TCC,TTC	S95F	XP_016880480.1

Gene

PSMC3IP

Gene Name

PSMC3 interacting protein

There are no transcripts associated with this gene.

View Full Product Details