Product Details

SNP ID

rs17281188

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48459000 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAACATAAAGCCTAGACTGACGGCC[G/A]TGAAGAGGACTCCCAGGACTCCAAA

Phenotype

MIM: 300649

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

SLC38A5 PubMed Links

Gene Details

Gene

SLC38A5

Gene Name

solute carrier family 38 member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033518.3	1414	Missense Mutation	ACG,ATG	T451M	NP_277053.2
XM_005272694.3	1414	Intron			XP_005272751.2
XM_005272695.4	1414	Missense Mutation	ACG,ATG	T498M	XP_005272752.3
XM_005272697.2	1414	Intron			XP_005272754.2
XM_005272698.4	1414	Intron			XP_005272755.2
XM_006724569.3	1414	Intron			XP_006724632.1
XM_017029960.1	1414	Missense Mutation	ACG,ATG	T457M	XP_016885449.1
XM_017029961.1	1414	Missense Mutation	ACG,ATG	T451M	XP_016885450.1

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