Product Details

SNP ID
rs200659267
Assay Type
Functionally tested
NCBI dbSNP Submissions
10
Location
Chr.1:205659445 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGTCCAGGCAGATGCCCCGGCCC[A/G]GAACCACCCTGGCCTCGGTGGGCTC
Phenotype
MIM: 605097
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SLC45A3 PubMed Links

Gene Details

Gene
SLC45A3
Gene Name
solute carrier family 45 member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033102.2 1956 Missense Mutation CCG,CTG P484L NP_149093.1
XM_005245556.3 1956 Missense Mutation CCG,CTG P484L XP_005245613.1
XM_005245557.4 1956 Missense Mutation CCG,CTG P484L XP_005245614.1
XM_005245560.2 1956 Intron XP_005245617.1
XM_017002638.1 1956 Missense Mutation CCG,CTG P484L XP_016858127.1

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