Product Details

SNP ID

rs201800716

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:32043351 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGTTGAGACCCACGAGCTCATT[C/T]GCAATGCAGCCGATATCTCCATCAT

Phenotype

MIM: 182380

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SLC5A1 PubMed Links

Gene Details

Gene

SLC5A1

Gene Name

solute carrier family 5 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000343.3	320	Missense Mutation	CGC,TGC	R24C	NP_000334.1
NM_001256314.1	320	Intron			NP_001243243.1
XM_011530331.1	320	Missense Mutation	CGC,TGC	R24C	XP_011528633.1

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