Product Details

SNP ID
rs201450663
Assay Type
Functionally tested
NCBI dbSNP Submissions
9
Location
Chr.1:61088315 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGATGAATTGCTAAGTGAAAAAC[C/T]AGAGGTCAAGCAGAAGTGGGCATCT
Phenotype
MIM: 600727
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NFIA PubMed Links

Gene Details

Gene
NFIA
Gene Name
nuclear factor I A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134673.3 600 Missense Mutation CCA,CTA P65L NP_001128145.1
NM_001145511.1 600 Missense Mutation CCA,CTA P57L NP_001138983.1
NM_001145512.1 600 Missense Mutation CCA,CTA P110L NP_001138984.1
NM_005595.4 600 Missense Mutation CCA,CTA P65L NP_005586.1
XM_011541512.2 600 Missense Mutation CCA,CTA P65L XP_011539814.1
XM_011541514.2 600 Missense Mutation CCA,CTA P57L XP_011539816.1
XM_011541515.2 600 Missense Mutation CCA,CTA P65L XP_011539817.1
XM_017001362.1 600 Missense Mutation CCA,CTA P57L XP_016856851.1
XM_017001363.1 600 Intron XP_016856852.1

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