Product Details

SNP ID

rs148842114

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40578547 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGTTACCTGCCGCCACCAGGTAG[A/G]CACTCCCAATGGAATGGAGGGGCGC

Phenotype

MIM: 606214

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

SHKBP1 PubMed Links

Additional Information

For this assay, SNP(s) [rs3217684] 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

SHKBP1

Gene Name

SH3KBP1 binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138392.3		Intron			NP_612401.2
XM_006723474.1		Intron			XP_006723537.1
XM_006723475.1		Intron			XP_006723538.1
XM_011527492.1		Intron			XP_011525794.1
XM_011527493.1		Intron			XP_011525795.1
XM_017027473.1		Intron			XP_016882962.1
XM_017027474.1		Intron			XP_016882963.1

Gene

SPTBN4

Gene Name

spectrin beta, non-erythrocytic 4

There are no transcripts associated with this gene.

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