Product Details

SNP ID

rs6744348

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27795158 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGCTGACTCCTTAGAGTTTTAC[A/C]ATCCCTTAAAAGTCCTGTGTGTTCA

Phenotype

MIM: 611132

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RBKS PubMed Links

Gene Details

Gene

RBKS

Gene Name

ribokinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287580.1		Intron			NP_001274509.1
NM_022128.2		Intron			NP_071411.1

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