Product Details

SNP ID

rs200857874

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:154891286 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGGGCTGCTCTGCTTCTACTTCC[A/G]GTTCATTCTTATCAGGACCATTTGC

Phenotype

MIM: 607005

Polymorphism

A/G, Transition 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	4297	Missense Mutation	CCG,CTG	P1405L	NP_001239085.1
NM_015465.4	4297	Missense Mutation	CCG,CTG	P1406L	NP_056280.2

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