Product Details

SNP ID

rs11539252

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:11554077 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGATGACTCCGGTGTTGCGGGCAC[A/G]GTCCCTGAAACAGACCAAGAGAAGG

Phenotype

MIM: 600806

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CNN1 PubMed Links

Gene Details

Gene

CNN1

Gene Name

calponin 1

There are no transcripts associated with this gene.

Gene

ELOF1

Gene Name

elongation factor 1 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032377.3	339	Missense Mutation	CGT,TGT	R41C	NP_115753.1
XM_017027356.1	339	Missense Mutation	CGT,TGT	R62C	XP_016882845.1
XM_017027357.1	339	Missense Mutation	CGT,TGT	R48C	XP_016882846.1
XM_017027358.1	339	Missense Mutation	CGT,TGT	R41C	XP_016882847.1
XM_017027359.1	339	Missense Mutation	CGT,TGT	R41C	XP_016882848.1

Gene

LOC105369211

Gene Name

uncharacterized LOC105369211

There are no transcripts associated with this gene.

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