Product Details

SNP ID
rs200148996
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:26448705 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGGATTGGAATTTGCCACTGGAC[A/C]TGTCACATTGGCATAACTGATATTG
Phenotype
MIM: 602157
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
NOVA1 PubMed Links

Gene Details

Gene
NOVA1
Gene Name
NOVA alternative splicing regulator 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002515.2 1152 Missense Mutation GGT,TGT G260C NP_002506.2
NM_006489.2 1152 Missense Mutation GGT,TGT G236C NP_006480.2
NM_006491.2 1152 Intron NP_006482.1
XM_011536800.2 1152 Missense Mutation GGT,TGT G114C XP_011535102.1
XM_017021342.1 1152 Missense Mutation GGT,TGT G223C XP_016876831.1
XM_017021343.1 1152 Missense Mutation GGT,TGT G199C XP_016876832.1
XM_017021344.1 1152 Missense Mutation GGT,TGT G138C XP_016876833.1
XM_017021345.1 1152 Missense Mutation GGT,TGT G138C XP_016876834.1
XM_017021346.1 1152 Missense Mutation GGT,TGT G138C XP_016876835.1
XM_017021347.1 1152 Missense Mutation GGT,TGT G138C XP_016876836.1
XM_017021348.1 1152 Missense Mutation GGT,TGT G138C XP_016876837.1
XM_017021349.1 1152 Missense Mutation GGT,TGT G114C XP_016876838.1

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