Product Details

SNP ID

rs143358595

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:153204811 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGAGTCCAAATGCCAGCCCAGCT[A/G]TTTAAAGAAGCTGCTGCAACGCTGT

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	227	Missense Mutation	TAT,TGT	Y35C	NP_001010857.1

Gene

SPRR2G

Gene Name

small proline rich protein 2G

There are no transcripts associated with this gene.

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