Product Details

SNP ID

rs201716703

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:38781599 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATGCTGTGCAGACTGTTGAAACT[A/G]TGAATGAAGGGGACCATAGAGTGAG

Phenotype

MIM: 607006

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GEMIN6 PubMed Links

Gene Details

Gene

GEMIN6

Gene Name

gem nuclear organelle associated protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024775.9	327	Missense Mutation	ATG,GTG	M71V	NP_079051.9

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