Product Details

SNP ID

rs71488055

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:100290883 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTGGATAGGGATGGAGCAGGCAC[A/T]GTAGGGACAGCCAAGAATCCAAGTC

Phenotype

MIM: 609768 MIM: 604532

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

BLOC1S2 PubMed Links

Gene Details

Gene

BLOC1S2

Gene Name

biogenesis of lysosomal organelles complex 1 subunit 2

There are no transcripts associated with this gene.

Gene

PKD2L1

Gene Name

polycystin 2 like 1, transient receptor potential cation channel

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001253837.1		Intron			NP_001240766.1
NM_016112.2		Intron			NP_057196.2
XM_011540323.2		Intron			XP_011538625.1
XM_011540325.2		Intron			XP_011538627.1
XM_017016875.1		Intron			XP_016872364.1
XM_017016876.1		Intron			XP_016872365.1

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