Product Details

SNP ID

rs146765114

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:126008826 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTAGATGATGTAGAAGAAAATC[A/T]GATGGCCTGGGACCACCAGCAAGAG

Phenotype

MIM: 610803

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

SLC41A3 PubMed Links

Gene Details

Gene

SLC41A3

Gene Name

solute carrier family 41 member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008485.1	1309	Missense Mutation	CAG,CTG	Q387L	NP_001008485.1
NM_001008486.1	1309	Missense Mutation	CAG,CTG	Q351L	NP_001008486.1
NM_001008487.1	1309	Missense Mutation	CAG,CTG	Q361L	NP_001008487.1
NM_001164475.1	1309	Missense Mutation	CAG,CTG	Q270L	NP_001157947.1
NM_017836.3	1309	Missense Mutation	CAG,CTG	Q387L	NP_060306.3
XM_005247559.1	1309	Missense Mutation	CAG,CTG	Q402L	XP_005247616.1
XM_005247562.1	1309	Missense Mutation	CAG,CTG	Q387L	XP_005247619.1
XM_005247563.2	1309	Missense Mutation	CAG,CTG	Q387L	XP_005247620.1
XM_005247564.1	1309	Missense Mutation	CAG,CTG	Q402L	XP_005247621.1
XM_005247565.2	1309	Missense Mutation	CAG,CTG	Q361L	XP_005247622.1
XM_006713681.2	1309	Missense Mutation	CAG,CTG	Q387L	XP_006713744.1
XM_011512945.1	1309	Missense Mutation	CAG,CTG	Q376L	XP_011511247.1
XM_017006705.1	1309	Missense Mutation	CAG,CTG	Q402L	XP_016862194.1
XM_017006706.1	1309	Missense Mutation	CAG,CTG	Q387L	XP_016862195.1
XM_017006707.1	1309	Missense Mutation	CAG,CTG	Q387L	XP_016862196.1
XM_017006708.1	1309	Missense Mutation	CAG,CTG	Q351L	XP_016862197.1
XM_017006709.1	1309	Missense Mutation	CAG,CTG	Q351L	XP_016862198.1

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