Product Details

SNP ID

rs1061123

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:98417240 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGCTGGGTGGGCTTCCTCCACGC[A/G]GGGAACAGCAGAGATGGGGCTTCCT

Phenotype

MIM: 604982

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HPS1 PubMed Links

Gene Details

Gene

HPS1

Gene Name

HPS1, biogenesis of lysosomal organelles complex 3 subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000195.4	2618	UTR 3			NP_000186.2
NM_001311345.1	2618	UTR 3			NP_001298274.1
NM_001322476.1	2618	UTR 3			NP_001309405.1
NM_001322477.1	2618	UTR 3			NP_001309406.1
NM_001322478.1	2618	UTR 3			NP_001309407.1
NM_001322479.1	2618	UTR 3			NP_001309408.1
NM_001322480.1	2618	UTR 3			NP_001309409.1
NM_001322481.1	2618	UTR 3			NP_001309410.1
NM_001322482.1	2618	UTR 3			NP_001309411.1
NM_001322483.1	2618	UTR 3			NP_001309412.1
NM_001322484.1	2618	UTR 3			NP_001309413.1
NM_001322485.1	2618	UTR 3			NP_001309414.1
NM_001322487.1	2618	UTR 3			NP_001309416.1
NM_001322489.1	2618	UTR 3			NP_001309418.1
NM_001322490.1	2618	Intron			NP_001309419.1
NM_001322491.1	2618	Intron			NP_001309420.1
NM_001322492.1	2618	Intron			NP_001309421.1
NM_182639.3	2618	Intron			NP_872577.1
XM_005269757.4	2618	UTR 3			XP_005269814.1
XM_017016170.1	2618	UTR 3			XP_016871659.1
XM_017016171.1	2618	UTR 3			XP_016871660.1
XM_017016172.1	2618	UTR 3			XP_016871661.1
XM_017016173.1	2618	Intron			XP_016871662.1

Gene

PYROXD2

Gene Name

pyridine nucleotide-disulphide oxidoreductase domain 2

There are no transcripts associated with this gene.

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