Product Details

SNP ID

rs146331013

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:8324453 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCGTGACACGACACCTCAGTCAC[C/T]GGGCCAACAACTTCAAACGACACCC

Phenotype

MIM: 605763

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SLC45A1 PubMed Links

Gene Details

Gene

SLC45A1

Gene Name

solute carrier family 45 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080397.2	250	Missense Mutation	CGG,TGG	R76W	NP_001073866.2
XM_011541530.1	250	Missense Mutation	CGG,TGG	R76W	XP_011539832.1
XM_011541531.1	250	Missense Mutation	CGG,TGG	R76W	XP_011539833.1

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