Product Details

SNP ID

rs11821600

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:18269906 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATCTGGCTGTGAGGCCCTCAGGG[C/T]AGGGATACAAAGCGGGGAGAGGGTA

Phenotype

MIM: 607521 MIM: 104750

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HPS5 PubMed Links

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	557	UTR 3			NP_000322.2
NM_001178006.2	557	UTR 3			NP_001171477.1
NM_199161.4	557	UTR 3			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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