Product Details

SNP ID

rs2027132

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:8074246 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGGCTAATTTCCTAACTTCTTTTAC[A/G]TGAGAAAAAAACAACCCACCCTGAT

Phenotype

MIM: 607289 MIM: 609206

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BLOC1S5 PubMed Links

Gene Details

Gene

BLOC1S5

Gene Name

biogenesis of lysosomal organelles complex 1 subunit 5

There are no transcripts associated with this gene.

Gene

BLOC1S5-TXNDC5

Gene Name

BLOC1S5-TXNDC5 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

EEF1E1

Gene Name

eukaryotic translation elongation factor 1 epsilon 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135650.1		Intron			NP_001129122.1
NM_004280.4		Intron			NP_004271.1

Gene

EEF1E1-BLOC1S5

Gene Name

EEF1E1-BLOC1S5 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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