Product Details

SNP ID

rs143627715

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:52290584 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGAACTTTCAGCTGAGGCAAAACC[C/T]CTACCTGGTGGGCTTTGGCAAGGCT

Phenotype

MIM: 610516

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GLYCTK PubMed Links

Gene Details

Gene

GLYCTK

Gene Name

glycerate kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144951.1	338	Missense Mutation	CCC,CTC	P81L	NP_001138423.1
NM_145262.3	338	Missense Mutation	CCC,CTC	P81L	NP_660305.2
XM_017005730.1	338	Intron			XP_016861219.1

Gene

GLYCTK-AS1

Gene Name

GLYCTK antisense RNA 1

There are no transcripts associated with this gene.

Gene

MIR135A1

Gene Name

microRNA 135a-1

There are no transcripts associated with this gene.

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