Product Details

SNP ID

rs142194664

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:43194881 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAGCTAGAACCTCAGAAAGTGCAA[A/G]CACACTGTGACAATACAGTGGAACT

Phenotype

MIM: 616616 MIM: 614531

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CSGALNACT2 PubMed Links

Gene Details

Gene

CSGALNACT2

Gene Name

chondroitin sulfate N-acetylgalactosaminyltransferase 2

There are no transcripts associated with this gene.

Gene

RASGEF1A

Gene Name

RasGEF domain family member 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282862.1	2890	UTR 3			NP_001269791.1
NM_145313.3	2890	UTR 3			NP_660356.2
XM_005271809.3	2890	Intron			XP_005271866.1
XM_011539500.2	2890	Intron			XP_011537802.1

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