Product Details

SNP ID
rs201395689
Assay Type
Functionally Tested
NCBI dbSNP Submissions
2
Location
Chr.1:153204790 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCCCAAGTGTGAACAAAAGTGTG[A/G]GTCCAAATGCCAGCCCAGCTGTTTA
Phenotype
MIM: 611042
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
LELP1 PubMed Links

Gene Details

Gene
LELP1
Gene Name
late cornified envelope like proline rich 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001010857.2 206 Missense Mutation GAG,GGG E28G NP_001010857.1
Gene
SPRR2G
Gene Name
small proline rich protein 2G
There are no transcripts associated with this gene.

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