Product Details

SNP ID
rs200632700
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:53128306 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAATCCCATTTGCTGCTCTTGCTT[A/G]GCAGTGAATATTGCTGATGAGGATG
Phenotype
MIM: 603715
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GCM1 PubMed Links

Gene Details

Gene
GCM1
Gene Name
glial cells missing homolog 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003643.3 1420 Missense Mutation CCA,CTA P404L NP_003634.2
XM_017011390.1 1420 Missense Mutation CCA,CTA P466L XP_016866879.1

View Full Product Details