Product Details

SNP ID

rs143095407

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:19149017 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCAGCTCCCCTTCGGGGACTTCT[C/T]GACGCCGGGCAGGAGCCTCGCGGAA

Phenotype

MIM: 601755 MIM: 601845

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DGCR14 PubMed Links

Gene Details

Gene

DGCR14

Gene Name

DiGeorge syndrome critical region gene 14

There are no transcripts associated with this gene.

Gene

GSC2

Gene Name

goosecoid homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005315.1	592	Missense Mutation	AAG,GAG	K198E	NP_005306.1

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