Product Details

SNP ID
rs200345240
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:77917644 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGGGTGATGTAAAGGATAAGTTT[A/G]AAGCCATGCAGAGAGCCAGGGAAGA
Phenotype
MIM: 613121
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NEXN PubMed Links

Gene Details

Gene
NEXN
Gene Name
nexilin F-actin binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172309.1 403 Intron NP_001165780.1
NM_144573.3 403 Missense Mutation AAA,GAA K36E NP_653174.3
XM_005271322.3 403 Missense Mutation AAA,GAA K36E XP_005271379.1
XM_005271323.3 403 Missense Mutation AAA,GAA K36E XP_005271380.1
XM_005271324.4 403 Intron XP_005271381.1
XM_005271325.3 403 Missense Mutation AAA,GAA K36E XP_005271382.1
XM_005271326.3 403 Intron XP_005271383.1
XM_005271327.3 403 Missense Mutation AAA,GAA K36E XP_005271384.1

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