Product Details

SNP ID

rs201083329

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:32043342 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCACCCGGCCTGTTGAGACCCAC[A/G]AGCTCATTCGCAATGCAGCCGATAT

Phenotype

MIM: 182380

Polymorphism

A/G, 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	311	Missense Mutation	AAG,GAG	K21E	NP_000334.1
NM_001256314.1	311	Intron			NP_001243243.1
XM_011530331.1	311	Missense Mutation	AAG,GAG	K21E	XP_011528633.1

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