Product Details

SNP ID

rs201658679

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:36141537 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGATGGCACGGATTTCACTCCCA[A/G]TGGTTTGTGTGGCTTCGTAATAATT

Phenotype

MIM: 607253

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

APOL3 PubMed Links

Gene Details

Gene

APOL3

Gene Name

apolipoprotein L3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014349.2	1843	Missense Mutation	ACT,ATT	T220I	NP_055164.1
NM_030644.1	1843	Missense Mutation	ACT,ATT	T220I	NP_085147.1
NM_145639.1	1843	Missense Mutation	ACT,ATT	T220I	NP_663614.1
NM_145640.2	1843	Missense Mutation	ACT,ATT	T291I	NP_663615.1
NM_145641.2	1843	Missense Mutation	ACT,ATT	T91I	NP_663616.1
NM_145642.2	1843	Missense Mutation	ACT,ATT	T91I	NP_663617.1
XM_006724324.1	1843	Missense Mutation	ACT,ATT	T220I	XP_006724387.1
XM_006724325.2	1843	Missense Mutation	ACT,ATT	T220I	XP_006724388.1
XM_017028946.1	1843	Missense Mutation	ACT,ATT	T221I	XP_016884435.1
XM_017028947.1	1843	Missense Mutation	ACT,ATT	T221I	XP_016884436.1
XM_017028948.1	1843	Missense Mutation	ACT,ATT	T221I	XP_016884437.1
XM_017028949.1	1843	Missense Mutation	ACT,ATT	T221I	XP_016884438.1
XM_017028950.1	1843	Missense Mutation	ACT,ATT	T221I	XP_016884439.1
XM_017028951.1	1843	Missense Mutation	ACT,ATT	T221I	XP_016884440.1
XM_017028952.1	1843	Missense Mutation	ACT,ATT	T91I	XP_016884441.1

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