Product Details

SNP ID

rs148923549

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18008350 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGAAAGCGTTCTCGGTGCAGTTG[C/G]ACGGCGCGACCGCGGGCGTCGAGCC

Phenotype

MIM: 602982

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ARRDC2 PubMed Links

Gene Details

Gene

ARRDC2

Gene Name

arrestin domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001025604.2	183	Intron			NP_001020775.1
NM_001286826.1	183	Missense Mutation	CAC,GAC	H14D	NP_001273755.1
NM_015683.1	183	Missense Mutation	CAC,GAC	H14D	NP_056498.1

Gene

KCNN1

Gene Name

potassium calcium-activated channel subfamily N member 1

There are no transcripts associated with this gene.

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