Product Details

SNP ID

rs201470982

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42569534 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGACTACATTCAGTTTTTGCACA[A/G]GGAGAAGAAAAAGCAGGAGGAGGAG

Phenotype

MIM: 609855 MIM: 616498 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

FAM134C

Gene Name

family with sequence similarity 134 member C

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	469	Missense Mutation	AAG,AGG	K189R	NP_733752.1
NM_198204.1	469	Missense Mutation	AAG,AGG	K135R	NP_937847.1
NM_198205.1	469	Missense Mutation	AAG,AGG	K105R	NP_937848.1
XM_017024991.1	469	Missense Mutation	AAG,AGG	K159R	XP_016880480.1

Gene

PSMC3IP

Gene Name

PSMC3 interacting protein

There are no transcripts associated with this gene.

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