Product Details

SNP ID

rs200453473

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:154891257 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTACTTACCACTGGCTCTGAGAAC[G/T]GCAGAGGGGCTGCTCTGCTTCTACT

Phenotype

MIM: 607005

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

GEMIN5 PubMed Links

Gene Details

Gene

GEMIN5

Gene Name

gem nuclear organelle associated protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001252156.1	4326	Missense Mutation	AGT,CGT	S1415R	NP_001239085.1
NM_015465.4	4326	Missense Mutation	AGT,CGT	S1416R	NP_056280.2

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