Product Details

SNP ID

rs200190849

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:203483445 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCCCCTGATTTCCCATCTGCCCT[C/G]TACTGTGATAGCCGCAACCTGCGAA

Phenotype

MIM: 601914

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PRELP PubMed Links

Gene Details

Gene

PRELP

Gene Name

proline and arginine rich end leucine rich repeat protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002725.3	461	Silent Mutation	CTC,CTG	L87L	NP_002716.1
NM_201348.1	461	Silent Mutation	CTC,CTG	L87L	NP_958505.1

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