Product Details

SNP ID

rs185962365

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:20627213 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAGAGGCATTAATGATGTCATCA[C/T]TCCTCCCCAGGAAACAAATGTAGCC

Phenotype

MIM: 614357

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ACSM1 PubMed Links

Additional Information

For this assay, SNP(s) [rs1692729] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ACSM1

Gene Name

acyl-CoA synthetase medium-chain family member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318890.1	2298	Missense Mutation	AAT,AGT	N468S	NP_001305819.1
NM_052956.2	2298	Missense Mutation	AAT,AGT	N468S	NP_443188.2
XM_006721016.2	2298	Missense Mutation	AAT,AGT	N434S	XP_006721079.1
XM_006721017.2	2298	Missense Mutation	AAT,AGT	N407S	XP_006721080.1
XM_006721018.2	2298	Missense Mutation	AAT,AGT	N248S	XP_006721081.1
XM_011545729.2	2298	Intron			XP_011544031.1
XM_011545730.2	2298	Intron			XP_011544032.1
XM_011545731.2	2298	Missense Mutation	AAT,AGT	N269S	XP_011544033.1
XM_011545732.2	2298	Missense Mutation	AAT,AGT	N248S	XP_011544034.1
XM_017022914.1	2298	Intron			XP_016878403.1
XM_017022915.1	2298	Missense Mutation	AAT,AGT	N230S	XP_016878404.1

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