Product Details

SNP ID: rs80347860
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:156544431 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATAATCAGCAACTTCATTCTTCTTC[A/C]ACAAGATTCTACAGACACAGAAACA
Phenotype: MIM: 601141 MIM: 606213
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: KCNAB1 PubMed Links

Gene Details

Gene: KCNAB1
Gene Name: potassium voltage-gated channel subfamily A member regulatory beta subunit 1

There are no transcripts associated with this gene.

Gene: SSR3
Gene Name: signal sequence receptor subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308197.1	518	Missense Mutation	TGG,TTG	W136L	NP_001295126.1
NM_001308204.1	518	Missense Mutation	TGG,TTG	W71L	NP_001295133.1
NM_001308205.1	518	Missense Mutation	TGG,TTG	W71L	NP_001295134.1
NM_007107.4	518	Missense Mutation	TGG,TTG	W123L	NP_009038.1

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