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SNP ID

rs115424454

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:8189834 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTGCCGGGAGGACAGGGAAGGTT[C/T]GTGCTCTGCACCCGGCGCCCCCCTG

Phenotype

MIM: 616599

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BORCS6 PubMed Links

Gene Details

Gene

BORCS6

Gene Name

BLOC-1 related complex subunit 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017622.2	413	Missense Mutation	AAA,GAA	K103E	NP_060092.2

Gene

MIR4521

Gene Name

microRNA 4521

There are no transcripts associated with this gene.

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