Product Details

SNP ID

rs4917887

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.10:100190351 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTTTTCTTAATGAAAGAGGAAAT[A/G]TACAGAATTGACATTAAGACTAAAT

Phenotype

MIM: 600664 MIM: 611604

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CHUK PubMed Links

Additional Information

For this assay, SNP(s) [rs78531297] 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

CHUK

Gene Name

conserved helix-loop-helix ubiquitous kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278.4	1619	Intron			NP_001269.3
NM_001320928.1	1619	Intron			NP_001307857.1
XM_017015611.1	1619	UTR 3			XP_016871100.1
XM_017015612.1	1619	Intron			XP_016871101.1
XM_017015613.1	1619	UTR 3			XP_016871102.1

Gene

ERLIN1

Gene Name

ER lipid raft associated 1

There are no transcripts associated with this gene.

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