Product Details

SNP ID

rs1044808

Assay Type

Functionally tested

NCBI dbSNP Submissions

29

Location

Chr.1:149900352 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CACGCAGCGCTGGCCGAGGAGCTGG[C/G]AGGTCCGGTCCATGCGCTGGCCATC

Phenotype

MIM: 613181 MIM: 185860

Polymorphism

C/G, 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	434	Missense Mutation	GCA,GGA	A98G	NP_001307954.1
NM_001321026.1	434	Missense Mutation	GCA,GGA	A98G	NP_001307955.1
NM_016074.4	434	Missense Mutation	GCA,GGA	A98G	NP_057158.1
XM_006711348.3	434	Missense Mutation	GCA,GGA	A98G	XP_006711411.1

Gene

SV2A

Gene Name

synaptic vesicle glycoprotein 2A

There are no transcripts associated with this gene.

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