Product Details

SNP ID

rs138404285

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:102854424 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTGCTGAAAGGCTCCCGGAGCTC[C/T]GAGGTGAGCTGGAAGTGGACTCTCC

Phenotype

MIM: 616600

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BORCS7 PubMed Links

Gene Details

Gene

BORCS7

Gene Name

BLOC-1 related complex subunit 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136200.1	215	Silent Mutation	TCC,TCT	S46S	NP_001129672.1
NM_144591.3	215	Silent Mutation	TCC,TCT	S46S	NP_653192.2

Gene

BORCS7-ASMT

Gene Name

BORCS7-ASMT readthrough (NMD candidate)

There are no transcripts associated with this gene.

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