Product Details

SNP ID

rs16970453

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:20624199 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGACAGGAACTGTGGGGTCAGGACA[A/G]TAAAGGCCTTCACCACCTGCAGAAT

Phenotype

MIM: 614357

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACSM1 PubMed Links

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	2439	Missense Mutation	ACT,ATT	T515I	NP_001305819.1
NM_052956.2	2439	Missense Mutation	ACT,ATT	T515I	NP_443188.2
XM_006721016.2	2439	Missense Mutation	ACT,ATT	T481I	XP_006721079.1
XM_006721017.2	2439	Missense Mutation	ACT,ATT	T454I	XP_006721080.1
XM_006721018.2	2439	Missense Mutation	ACT,ATT	T295I	XP_006721081.1
XM_011545729.2	2439	Intron			XP_011544031.1
XM_011545730.2	2439	Missense Mutation	ACT,ATT	T357I	XP_011544032.1
XM_011545731.2	2439	Missense Mutation	ACT,ATT	T316I	XP_011544033.1
XM_011545732.2	2439	Missense Mutation	ACT,ATT	T295I	XP_011544034.1
XM_017022914.1	2439	Intron			XP_016878403.1
XM_017022915.1	2439	Missense Mutation	ACT,ATT	T277I	XP_016878404.1

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