Product Details

SNP ID

rs141104490

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:38781759 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCATCACTGAACAGGGAGACGCTC[C/T]AAGGACTCTCTGTGTGGCTGGGGTC

Phenotype

MIM: 607006

Polymorphism

C/T, 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	487	Missense Mutation	CCA,CTA	P124L	NP_079051.9

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