Product Details

SNP ID
rs201864753
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:12449726 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAGACTGCGTTTTCCTTTTCAAT[C/T]GGGCCCTTTTGTTGGCCAACACCAG
Phenotype
MIM: 609216
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LOC105371998 PubMed Links

Gene Details

Gene
LOC105371998
Gene Name
uncharacterized LOC105371998
There are no transcripts associated with this gene.

Gene
SPIRE1
Gene Name
spire type actin nucleation factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001128626.1 2593 Missense Mutation CAA,CGA Q728R NP_001122098.1
NM_001128627.1 2593 Missense Mutation CAA,CGA Q594R NP_001122099.1
NM_020148.2 2593 Missense Mutation CAA,CGA Q714R NP_064533.3
XM_005258122.4 2593 Missense Mutation CAA,CGA Q772R XP_005258179.1
XM_011525701.1 2593 Missense Mutation CAA,CGA Q786R XP_011524003.1
XM_011525702.1 2593 Missense Mutation CAA,CGA Q666R XP_011524004.1
XM_011525703.2 2593 Intron XP_011524005.1

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