Product Details

SNP ID: rs8847
Assay Type: Validated
NCBI dbSNP Submissions: 50
Location: Chr.1:155289532 on Build GRCh38
Set Membership: JSNP Validated
Context Sequence [VIC/FAM]: CCACATGAGAGAGGGAGAAGGACCG[C/T]GTTTACCTTTAGAGTTTTGTTTTGT
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	2770	UTR 3			NP_065948.1
XM_011509816.2	2770	UTR 3			XP_011508118.1
XM_011509817.2	2770	UTR 3			XP_011508119.1
XM_011509818.2	2770	UTR 3			XP_011508120.1
XM_017001918.1	2770	UTR 3			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	2770	UTR 3			NP_000289.1
NM_181871.3	2770	UTR 3			NP_870986.1
XM_006711386.3	2770	Intron			XP_006711449.1
XM_011509640.2	2770	Intron			XP_011507942.1
XM_017001493.1	2770	Intron			XP_016856982.1

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