Product Details

SNP ID

rs201455361

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4672138 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTTCCAGTTCTTCTTCCTCCTC[A/C]TCATCCTCCTCTTCTTCTTCTTCCT

Phenotype

MIM: 609455

Polymorphism

A/C, Transversion 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	3079	Missense Mutation	GAG,GAT	E804D	NP_001265170.1
NM_014389.2	3079	Missense Mutation	GAG,GAT	E1001D	NP_055204.3

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