Product Details

SNP ID

rs147283338

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:53128411 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGACGTAGCTGTTAAAATCCACA[C/T]GTACTTTCTCTTCATAAAGATTACC

Phenotype

MIM: 603715

Polymorphism

C/T, 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	1315	Missense Mutation			NP_003634.2
XM_017011390.1	1315	Missense Mutation			XP_016866879.1

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