Product Details

SNP ID
rs139475417
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:149900238 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCAACGAGAGCGGTGGCCACGCGG[A/T]CCCGCCTGGCAGTGAGACTCACTTC
Phenotype
MIM: 613181 MIM: 185860
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
BOLA1 PubMed Links

Gene Details

Gene
BOLA1
Gene Name
bolA family member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321025.1 320 Missense Mutation GAC,GTC D60V NP_001307954.1
NM_001321026.1 320 Missense Mutation GAC,GTC D60V NP_001307955.1
NM_016074.4 320 Missense Mutation GAC,GTC D60V NP_057158.1
XM_006711348.3 320 Missense Mutation GAC,GTC D60V XP_006711411.1
Gene
SV2A
Gene Name
synaptic vesicle glycoprotein 2A
There are no transcripts associated with this gene.

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