Product Details

SNP ID

rs12980170

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1027287 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGGGCGGTAGCCGCTTTGCACG[G/T]TCTTTGTCTCCCATCTGACTAATTT

Phenotype

MIM: 602373 MIM: 611011

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CNN2 PubMed Links

Gene Details

Gene

CNN2

Gene Name

calponin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303499.1		Intron			NP_001290428.1
NM_001303501.1		Intron			NP_001290430.1
NM_004368.3		Intron			NP_004359.1
NM_201277.2		Intron			NP_958434.1

Gene

RNU6-2

Gene Name

RNA, U6 small nuclear 2

There are no transcripts associated with this gene.

Gene

TMEM259

Gene Name

transmembrane protein 259

There are no transcripts associated with this gene.

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