Product Details

SNP ID

rs200462500

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:6442123 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGACAGGATGTGACGTAGCAGA[A/C]CCAGCATGGACAGCTGGGGGCCACC

Phenotype

MIM: 608746 MIM: 610822

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SLC25A23 PubMed Links

Gene Details

Gene

SLC25A23

Gene Name

solute carrier family 25 member 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024103.2	1684	Missense Mutation	GGT,GTT	G420V	NP_077008.2
XM_011528274.1	1684	Missense Mutation	GGT,GTT	G467V	XP_011526576.1
XM_011528275.1	1684	Missense Mutation	GGT,GTT	G420V	XP_011526577.1
XM_011528276.1	1684	Missense Mutation	GGT,GTT	G411V	XP_011526578.1
XM_011528277.1	1684	Missense Mutation	GGT,GTT	G467V	XP_011526579.1
XM_011528278.1	1684	Missense Mutation	GGT,GTT	G467V	XP_011526580.1
XM_011528279.1	1684	Missense Mutation	GGT,GTT	G375V	XP_011526581.1
XM_011528280.1	1684	Intron			XP_011526582.1
XM_011528281.1	1684	Missense Mutation	GGT,GTT	G467V	XP_011526583.1
XM_011528282.1	1684	Intron			XP_011526584.1
XM_011528283.1	1684	Intron			XP_011526585.1
XM_011528284.1	1684	Intron			XP_011526586.1
XM_011528285.1	1684	Missense Mutation	GGT,GTT	G411V	XP_011526587.1
XM_017027285.1	1684	Missense Mutation	GGT,GTT	G467V	XP_016882774.1
XM_017027286.1	1684	Missense Mutation	GGT,GTT	G364V	XP_016882775.1
XM_017027287.1	1684	Missense Mutation	GGT,GTT	G328V	XP_016882776.1
XM_017027288.1	1684	Intron			XP_016882777.1
XM_017027289.1	1684	Missense Mutation	GGT,GTT	G375V	XP_016882778.1
XM_017027290.1	1684	Missense Mutation	GGT,GTT	G364V	XP_016882779.1
XM_017027291.1	1684	Missense Mutation	GGT,GTT	G328V	XP_016882780.1
XM_017027292.1	1684	Intron			XP_016882781.1

Gene

SLC25A41

Gene Name

solute carrier family 25 member 41

There are no transcripts associated with this gene.

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