Product Details

SNP ID

rs149707428

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1791061 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGCTTGCCCAGGCCCTGGAAGA[C/G]GCGGTGGGGCAGGTGCGTGAGCTGG

Phenotype

MIM: 601489 MIM: 610779 MIM: 611659

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

IGFALS PubMed Links

Additional Information

For this assay, SNP(s) [rs17559] are located under a primer 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

IGFALS

Gene Name

insulin like growth factor binding protein acid labile subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146006.1	1552	Missense Mutation	CTC,GTC	L491V	NP_001139478.1
NM_004970.2	1552	Missense Mutation	CTC,GTC	L453V	NP_004961.1

Gene

NUBP2

Gene Name

nucleotide binding protein 2

There are no transcripts associated with this gene.

Gene

SPSB3

Gene Name

splA/ryanodine receptor domain and SOCS box containing 3

There are no transcripts associated with this gene.

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