Product Details

SNP ID

rs143007228

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:28704004 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACAGCAGGAAAGTGAAGCCAGGGT[A/G]CCAAGCAACAGTGGCTGAGTAAATT

Phenotype

MIM: 616764

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SLC46A3 PubMed Links

Gene Details

Gene

SLC46A3

Gene Name

solute carrier family 46 member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135919.1	1782	Missense Mutation	CAC,TAC	H414Y	NP_001129391.1
NM_181785.3	1782	Missense Mutation	CAC,TAC	H414Y	NP_861450.1
XM_005266361.2	1782	Missense Mutation	CAC,TAC	H414Y	XP_005266418.1

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