Product Details

SNP ID

rs34926154

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:102854340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCGCGGTTCGGTCAGTCCGTGAA[A/G]GGGCTTCTCACGGAGAAGGTGACCA

Phenotype

MIM: 616600

Polymorphism

A/G, 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	131	Silent Mutation	AAA,AAG	K18K	NP_001129672.1
NM_144591.3	131	Silent Mutation	AAA,AAG	K18K	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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