Product Details

SNP ID

rs200400514

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65376460 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCTGAGGAAGGTGACAGCATTGA[C/T]GGGAAAGGCGCGGGCACTGTTGATG

Phenotype

MIM: 610825

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SLC25A45 PubMed Links

Gene Details

Gene

SLC25A45

Gene Name

solute carrier family 25 member 45

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077241.2	1823	Missense Mutation	ATC,GTC	I230V	NP_001070709.2
NM_001278250.2	1823	Missense Mutation	ATC,GTC	I248V	NP_001265179.2
NM_001278251.2	1823	Missense Mutation	ATC,GTC	I230V	NP_001265180.2
NM_001300820.1	1823	Missense Mutation	ATC,GTC	I210V	NP_001287749.1
NM_182556.3	1823	Missense Mutation	ATC,GTC	I272V	NP_872362.3
XM_006718509.3	1823	Missense Mutation	ATC,GTC	I230V	XP_006718572.1
XM_006718510.3	1823	Missense Mutation	ATC,GTC	I230V	XP_006718573.1
XM_011544943.2	1823	Missense Mutation	ATC,GTC	I230V	XP_011543245.1
XM_011544944.2	1823	Missense Mutation	ATC,GTC	I230V	XP_011543246.1
XM_011544947.2	1823	Intron			XP_011543249.1
XM_011544949.2	1823	Missense Mutation	ATC,GTC	I230V	XP_011543251.1
XM_017017562.1	1823	Intron			XP_016873051.1
XM_017017563.1	1823	Missense Mutation	ATC,GTC	I230V	XP_016873052.1
XM_017017564.1	1823	Missense Mutation	ATC,GTC	I230V	XP_016873053.1
XM_017017565.1	1823	Missense Mutation	ATC,GTC	I230V	XP_016873054.1
XM_017017566.1	1823	Missense Mutation	ATC,GTC	I230V	XP_016873055.1
XM_017017567.1	1823	Missense Mutation	ATC,GTC	I230V	XP_016873056.1
XM_017017568.1	1823	Missense Mutation	ATC,GTC	I230V	XP_016873057.1
XM_017017569.1	1823	Missense Mutation	ATC,GTC	I230V	XP_016873058.1
XM_017017570.1	1823	Missense Mutation	ATC,GTC	I168V	XP_016873059.1
XM_017017571.1	1823	Missense Mutation	ATC,GTC	I168V	XP_016873060.1

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