Product Details

SNP ID

rs17850140

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:18269787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACTCGCTGGCTGATCAGGCTGCC[A/G]ATGAATGGGGCAGGAGTGGCAAAGA

Phenotype

MIM: 607521 MIM: 104750

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

HPS5 PubMed Links

Additional Information

For this assay, SNP(s) [rs12218,rs15790] 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

HPS5

Gene Name

HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

There are no transcripts associated with this gene.

Gene

SAA1

Gene Name

serum amyloid A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000331.5	438	Missense Mutation	AAT,GAT	N101D	NP_000322.2
NM_001178006.2	438	Missense Mutation	AAT,GAT	N101D	NP_001171477.1
NM_199161.4	438	Missense Mutation	AAT,GAT	N101D	NP_954630.1

Gene

ST13P5

Gene Name

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 5

There are no transcripts associated with this gene.

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