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SNP ID

rs149478090

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:6716749 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTCCTGCACACGATGAACGTGCC[C/T]TCGCTCTTTAGCAAGTCTGCTCCCT

Phenotype

MIM: 605695

Polymorphism

C/T, Transition 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	635	Silent Mutation	CCC,CCT	P180P	NP_060836.1

Gene

MRFAP1L1

Gene Name

Morf4 family associated protein 1 like 1

There are no transcripts associated with this gene.

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