Product Details

SNP ID

rs200230756

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:55626576 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGATTAATTTAGGCCATGTCAGA[C/T]GCTCTTCTTGGTGGAGGGAAATTAT

Phenotype

MIM: 616203

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SLC38A9 PubMed Links

Gene Details

Gene

SLC38A9

Gene Name

solute carrier family 38 member 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001258286.1	2027	Missense Mutation	CAT,CGT	H472R	NP_001245215.1
NM_001258287.1	2027	Missense Mutation	CAT,CGT	H472R	NP_001245216.1
NM_001282429.1	2027	Missense Mutation	CAT,CGT	H411R	NP_001269358.1
NM_173514.3	2027	Missense Mutation	CAT,CGT	H535R	NP_775785.2
XM_006714537.2	2027	Missense Mutation	CAT,CGT	H535R	XP_006714600.1
XM_006714538.3	2027	Missense Mutation	CAT,CGT	H535R	XP_006714601.1
XM_006714539.3	2027	Missense Mutation	CAT,CGT	H535R	XP_006714602.1
XM_011543173.1	2027	Missense Mutation	CAT,CGT	H535R	XP_011541475.1
XM_011543174.1	2027	Missense Mutation	CAT,CGT	H535R	XP_011541476.1
XM_011543176.1	2027	Missense Mutation	CAT,CGT	H505R	XP_011541478.1
XM_011543177.1	2027	Missense Mutation	CAT,CGT	H499R	XP_011541479.1
XM_011543178.1	2027	Missense Mutation	CAT,CGT	H478R	XP_011541480.1
XM_011543180.1	2027	Missense Mutation	CAT,CGT	H434R	XP_011541482.1
XM_011543182.1	2027	UTR 3			XP_011541484.1
XM_011543183.1	2027	Missense Mutation	CAT,CGT	H413R	XP_011541485.1
XM_011543184.1	2027	Missense Mutation	CAT,CGT	H377R	XP_011541486.1
XM_017009077.1	2027	Missense Mutation	CAT,CGT	H505R	XP_016864566.1
XM_017009078.1	2027	Missense Mutation	CAT,CGT	H478R	XP_016864567.1
XM_017009079.1	2027	Missense Mutation	CAT,CGT	H470R	XP_016864568.1
XM_017009080.1	2027	Missense Mutation	CAT,CGT	H470R	XP_016864569.1
XM_017009081.1	2027	Missense Mutation	CAT,CGT	H440R	XP_016864570.1
XM_017009082.1	2027	Missense Mutation	CAT,CGT	H434R	XP_016864571.1

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