Product Details

SNP ID

rs112480622

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4672150 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTTCCTCCTCCTCATCCTCCTC[C/T]TCTTCTTCTTCCTCTAACTCACCTT

Phenotype

MIM: 609455

Polymorphism

C/T, 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	3067	Silent Mutation	GAA,GAG	E800E	NP_001265170.1
NM_014389.2	3067	Silent Mutation	GAA,GAG	E997E	NP_055204.3

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