Product Details

SNP ID

rs200800513

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4671857 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCTCCTGGGGAGGGGGCCCTGCC[A/G]CAGGGCTTTCCCCTTCCCTCTCCAC

Phenotype

MIM: 609455

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PELP1 PubMed Links

Gene Details

Gene

PELP1

Gene Name

proline, glutamate and leucine rich protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278241.1	3360	Missense Mutation	GCG,GTG	A821V	NP_001265170.1
NM_014389.2	3360	Missense Mutation	GCG,GTG	A1095V	NP_055204.3

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