Product Details

SNP ID

rs144428317

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17943353 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCAGCGTGGAGGCGCGCACCATC[C/G]AGGACGCCATTGCAGTGCTCAGGTA

Phenotype

MIM: 602982

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CCDC124 PubMed Links

Gene Details

Gene

CCDC124

Gene Name

coiled-coil domain containing 124

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136203.1	487	Missense Mutation	CAG,GAG	Q148E	NP_001129675.1
NM_138442.3	487	Missense Mutation	CAG,GAG	Q148E	NP_612451.1

Gene

KCNN1

Gene Name

potassium calcium-activated channel subfamily N member 1

There are no transcripts associated with this gene.

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