Product Details

SNP ID

rs34277242

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:155282616 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTGCTGAGATCCTGCTGGCACCG[C/G]GGGCCATCCGCACGCGCTACCTGCG

Phenotype

MIM: 602989 MIM: 609973 MIM: 609712

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CLK2 PubMed Links

Gene Details

Gene

CLK2

Gene Name

CDC like kinase 2

There are no transcripts associated with this gene.

Gene

HCN3

Gene Name

hyperpolarization activated cyclic nucleotide gated potassium channel 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020897.2	648	Missense Mutation	CGG,GGG	R162G	NP_065948.1
XM_011509816.2	648	Missense Mutation	CGG,GGG	R115G	XP_011508118.1
XM_011509817.2	648	Missense Mutation	CGG,GGG	R162G	XP_011508119.1
XM_011509818.2	648	Intron			XP_011508120.1
XM_017001918.1	648	Intron			XP_016857407.1

Gene

PKLR

Gene Name

pyruvate kinase, liver and RBC

There are no transcripts associated with this gene.

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