Product Details

SNP ID

rs200156270

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:7323285 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAGAAATTAAACCAGGTTCAATG[A/G]GGAAAGGAATGCTGCCCTATGATGT

Phenotype

MIM: 614360 MIM: 606079

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACSM4 PubMed Links

Gene Details

Gene

ACSM4

Gene Name

acyl-CoA synthetase medium-chain family member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080454.1	1177	Missense Mutation	AGG,GGG	R393G	NP_001073923.1

Gene

CD163L1

Gene Name

CD163 molecule like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297650.1	1177	Intron			NP_001284579.1
NM_174941.5	1177	Intron			NP_777601.2
XM_011520616.1	1177	Intron			XP_011518918.1
XM_011520617.2	1177	Intron			XP_011518919.1
XM_011520618.2	1177	Intron			XP_011518920.1
XM_011520619.1	1177	Intron			XP_011518921.1
XM_011520620.1	1177	Intron			XP_011518922.1
XM_011520621.2	1177	Intron			XP_011518923.1

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