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

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