Product Details

SNP ID

rs200876867

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:154891401 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCAACAGTTCTCTGTGAGTTTT[A/G]GAGACTGGCATGCTTTTCTGAAAAG

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	4182	Nonsense Mutation	CAA,TAA	Q1367*	NP_001239085.1
NM_015465.4	4182	Nonsense Mutation	CAA,TAA	Q1368*	NP_056280.2

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