Product Details

SNP ID

rs145721869

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:53128539 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAAGAGTTTTGGGAAGGAGAGAA[G/T]CTGCAAGGCCAGCTGGTCAGAGGAA

Phenotype

MIM: 603715

Polymorphism

G/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	1187	Missense Mutation	AGA,AGC	R326S	NP_003634.2
XM_017011390.1	1187	Missense Mutation	AGA,AGC	R388S	XP_016866879.1

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