Product Details

SNP ID
rs80245452
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:104938197 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTCCAGCCCAGTGCCCACAGGCC[C/T]GATCAGTTCACCCTCTTCCTTCTCT
Phenotype
MIM: 608570
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
AHNAK2 PubMed Links

Gene Details

Gene
AHNAK2
Gene Name
AHNAK nucleoprotein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138420.2 17374 Missense Mutation NP_612429.2
XM_005267299.1 17374 Missense Mutation XP_005267356.1
Gene
PLD4
Gene Name
phospholipase D family member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308174.1 17374 Intron NP_001295103.1
NM_138790.3 17374 Intron NP_620145.2
XM_011536411.2 17374 Intron XP_011534713.1
XM_017020965.1 17374 Intron XP_016876454.1

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