Product Details

SNP ID

rs138510953

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:100290402 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCCTTTCTTGGCTGCACGTACA[C/T]GTAGAATTCTTCTCCTGAAACCCAG

Phenotype

MIM: 609768 MIM: 604532

Polymorphism

C/T, Transition 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	2181	Missense Mutation	ATG,GTG	M662V	NP_001240766.1
NM_016112.2	2181	Missense Mutation	ATG,GTG	M709V	NP_057196.2
XM_011540323.2	2181	Missense Mutation	ATG,GTG	M612V	XP_011538625.1
XM_011540325.2	2181	Missense Mutation	ATG,GTG	M589V	XP_011538627.1
XM_017016875.1	2181	Missense Mutation	ATG,GTG	M612V	XP_016872364.1
XM_017016876.1	2181	Missense Mutation	ATG,GTG	M551V	XP_016872365.1

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