Product Details

SNP ID

rs147653734

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.22:49919793 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGCAGCGACTTCGAATGCAATCA[C/G]ATGCTAGAGGCGCAGGAGGAGCACC

Phenotype

MIM: 607144 MIM: 607171

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

ALG12 PubMed Links

Additional Information

For this assay, SNP(s) [rs9616388] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ALG12

Gene Name

ALG12, alpha-1,6-mannosyltransferase

There are no transcripts associated with this gene.

Gene

CRELD2

Gene Name

cysteine rich with EGF like domains 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135101.2	416	Missense Mutation	CAC,CAG	H92Q	NP_001128573.1
NM_001284317.1	416	Missense Mutation	CAC,CAG	H92Q	NP_001271246.1
NM_001284318.1	416	Missense Mutation	CAC,CAG	H92Q	NP_001271247.1
NM_024324.4	416	Missense Mutation	CAC,CAG	H92Q	NP_077300.3
XM_005261737.2	416	Missense Mutation	CAC,CAG	H92Q	XP_005261794.1
XM_005261738.4	416	Missense Mutation	CAC,CAG	H92Q	XP_005261795.1
XM_011530372.2	416	Missense Mutation	CAC,CAG	H92Q	XP_011528674.1
XM_017028938.1	416	UTR 5			XP_016884427.1

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