Product Details

SNP ID

rs199642592

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:6709362 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGCACAACTCCGACACTCTCTCGT[A/C]GGCTTCGCCACTCGGGTGCTGCACG

Phenotype

MIM: 605695

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BLOC1S4 PubMed Links

Gene Details

Gene

BLOC1S4

Gene Name

biogenesis of lysosomal organelles complex 1 subunit 4

There are no transcripts associated with this gene.

Gene

MRFAP1L1

Gene Name

Morf4 family associated protein 1 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_203462.2	518	Missense Mutation	GAC,TAC	D90Y	NP_982287.1
XM_005247932.1	518	Missense Mutation	GAC,TAC	D90Y	XP_005247989.1

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