Product Details

SNP ID

rs200748598

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:140389288 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCCCATCTCCAGATCCTGTGCTC[C/T]CATCTGCTTCTTTCATCTAGAAAAA

Phenotype

MIM: 601858

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CLGN PubMed Links

Gene Details

Gene

CLGN

Gene Name

calmegin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130675.1	1903	Missense Mutation	GAG,GGG	E590G	NP_001124147.1
NM_004362.2	1903	Missense Mutation	GAG,GGG	E590G	NP_004353.1

Gene

SCOC

Gene Name

short coiled-coil protein

There are no transcripts associated with this gene.

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