Product Details

SNP ID

rs113780894

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:6716700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCACCAAGGCCGAGGCCGAGCTGG[C/G]CACCTTCCCCAGGGCGTTCAAGAAG

Phenotype

MIM: 605695

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BLOC1S4 PubMed Links

Gene Details

Gene

BLOC1S4

Gene Name

biogenesis of lysosomal organelles complex 1 subunit 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018366.2	586	Missense Mutation	GCC,GGC	A164G	NP_060836.1

Gene

MRFAP1L1

Gene Name

Morf4 family associated protein 1 like 1

There are no transcripts associated with this gene.

View Full Product Details