Product Details

SNP ID

rs139699761

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:53128249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCAGAAGCATATCATTGTTGCAG[A/T]GATCCAAACCCAAGTATGTCATTTC

Phenotype

MIM: 603715

Polymorphism

A/T, Transversion 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	1477	Missense Mutation	CAC,CTC	H423L	NP_003634.2
XM_017011390.1	1477	Missense Mutation	CAC,CTC	H485L	XP_016866879.1

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