Product Details

SNP ID

rs148896847

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:38123094 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGCAGCGGCTCCCATTCCAGTCC[C/T]GATGCACATGGACACCACTCCGTAT

Phenotype

MIM: 604054 MIM: 604050

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACAA1 PubMed Links

Gene Details

Gene

ACAA1

Gene Name

acetyl-CoA acyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130410.1	1435	Missense Mutation	AGG,GGG	R317G	NP_001123882.1
NM_001607.3	1435	Missense Mutation	AGG,GGG	R410G	NP_001598.1
XM_006713122.1	1435	Missense Mutation	AGG,GGG	R350G	XP_006713185.1
XM_006713123.2	1435	Missense Mutation	AGG,GGG	R258G	XP_006713186.1
XM_011533650.2	1435	Missense Mutation	AGG,GGG	R265G	XP_011531952.1

Gene

DLEC1

Gene Name

deleted in lung and esophageal cancer 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321153.1	1435	Intron			NP_001308082.1
NM_007335.3	1435	Intron			NP_031361.2
NM_007337.3	1435	Intron			NP_031363.2
XM_006713438.3	1435	Intron			XP_006713501.1
XM_006713439.3	1435	Intron			XP_006713502.1
XM_006713440.3	1435	Intron			XP_006713503.1
XM_011534317.2	1435	Intron			XP_011532619.1
XM_011534318.2	1435	Intron			XP_011532620.1

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