Product Details

SNP ID
rs201124199
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:104928884 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGTCCACGTGGCTTCATACTACTG[A/G]TCCCTCACAGGGCCTGACATCGGGG
Phenotype
MIM: 608570
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AHNAK2 PubMed Links

Gene Details

Gene
AHNAK2
Gene Name
AHNAK nucleoprotein 2
There are no transcripts associated with this gene.

Gene
PLD4
Gene Name
phospholipase D family member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308174.1 595 Nonsense Mutation TGA,TGG *147W NP_001295103.1
NM_138790.3 595 Nonsense Mutation TGA,TGG *140W NP_620145.2
XM_011536411.2 595 Nonsense Mutation TGA,TGG *147W XP_011534713.1
XM_017020965.1 595 Nonsense Mutation TGA,TGG *140W XP_016876454.1

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