Product Details

SNP ID

rs199850038

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:155282642 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCATCCGCACGCGCTACCTGCG[C/T]ACCTGGTTCCTGGTTGACCTCATCT

Phenotype

MIM: 602989 MIM: 609973 MIM: 609712

Polymorphism

C/T, Transition 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	674	Silent Mutation	CGC,CGT	R170R	NP_065948.1
XM_011509816.2	674	Silent Mutation	CGC,CGT	R123R	XP_011508118.1
XM_011509817.2	674	Silent Mutation	CGC,CGT	R170R	XP_011508119.1
XM_011509818.2	674	Intron			XP_011508120.1
XM_017001918.1	674	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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