Product Details

SNP ID

rs112120460

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:32043369 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCATTCGCAATGCAGCCGATATC[C/T]CCATCATCGTTATCTACTTCGTGGT

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	338	Missense Mutation	CCC,TCC	P30S	NP_000334.1
NM_001256314.1	338	Intron			NP_001243243.1
XM_011530331.1	338	Missense Mutation	CCC,TCC	P30S	XP_011528633.1

View Full Product Details