Product Details

SNP ID

rs112597637

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:142002050 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCTAATCGCTGTATGGTTTCTT[C/T]GAAGATTGGCTTTTCTCAGTTTCTT

Phenotype

MIM: 601798 MIM: 605675

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GNPDA1 PubMed Links

Gene Details

Gene

GNPDA1

Gene Name

glucosamine-6-phosphate deaminase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005471.4	916	Silent Mutation	TCA,TCG	S283S	NP_005462.1
XM_005268348.1	916	Silent Mutation	TCA,TCG	S312S	XP_005268405.1
XM_006714747.2	916	Silent Mutation	TCA,TCG	S283S	XP_006714810.1
XM_011537537.1	916	Silent Mutation	TCA,TCG	S283S	XP_011535839.1

Gene

RNF14

Gene Name

ring finger protein 14

There are no transcripts associated with this gene.

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