Product Details

SNP ID

rs190966689

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:155290652 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTCACCACAATCACCAGGTCTC[C/T]AACACGGAGGAAGCCACGGAGCTTT

Phenotype

MIM: 609973 MIM: 609712

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HCN3 PubMed Links

Gene Details

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	1621	Intron			NP_065948.1
XM_011509816.2	1621	Intron			XP_011508118.1
XM_011509817.2	1621	Intron			XP_011508119.1
XM_011509818.2	1621	Intron			XP_011508120.1
XM_017001918.1	1621	Intron			XP_016857407.1

Gene

PKLR

Gene Name

pyruvate kinase, liver and RBC

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000298.5	1621	Missense Mutation	AGA,GGA	R549G	NP_000289.1
NM_181871.3	1621	Missense Mutation	AGA,GGA	R518G	NP_870986.1
XM_006711386.3	1621	Missense Mutation	AGA,GGA	R485G	XP_006711449.1
XM_011509640.2	1621	Missense Mutation	AGA,GGA	R485G	XP_011507942.1
XM_017001493.1	1621	Intron			XP_016856982.1

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