Product Details

SNP ID

rs141801834

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:189563614 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAGCAGCAATGACGCCTGCAAACA[C/G]CAGACTGACAGAGATTATGGGCACA

Phenotype

MIM: 604653

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SLC40A1 PubMed Links

Gene Details

Gene

SLC40A1

Gene Name

solute carrier family 40 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014585.5	1858	Missense Mutation	CTG,GTG	L458V	NP_055400.1
XM_005246505.1	1858	Missense Mutation	CTG,GTG	L418V	XP_005246562.1
XM_017003938.1	1858	Missense Mutation	CTG,GTG	L418V	XP_016859427.1

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