Product Details

SNP ID

rs57097969

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:154891253 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCAGTACTTACCACTGGCTCTGA[A/G]AACTGCAGAGGGGCTGCTCTGCTTC

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	4330	Missense Mutation	TCT,TTT	S1416F	NP_001239085.1
NM_015465.4	4330	Missense Mutation	TCT,TTT	S1417F	NP_056280.2

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