Product Details

SNP ID
rs199508320
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219232490 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTATCTCATATTGTCTGTCTTCAG[C/G]AGATCTTTCCAGCATCTCGGGATCA
Phenotype
MIM: 612204
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ANKZF1 PubMed Links

Gene Details

Gene
ANKZF1
Gene Name
ankyrin repeat and zinc finger domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042410.1 539 Missense Mutation GCA,GGA A122G NP_001035869.1
NM_001282792.1 539 UTR 5 NP_001269721.1
NM_018089.2 539 Missense Mutation GCA,GGA A122G NP_060559.2
XM_005246663.2 539 Missense Mutation GCA,GGA A57G XP_005246720.1
XM_011511392.2 539 Missense Mutation GCA,GGA A122G XP_011509694.1
XM_017004420.1 539 Missense Mutation GCA,GGA A57G XP_016859909.1
XM_017004421.1 539 Missense Mutation GCA,GGA A122G XP_016859910.1
Gene
ATG9A
Gene Name
autophagy related 9A
There are no transcripts associated with this gene.

Gene
GLB1L
Gene Name
galactosidase beta 1 like
There are no transcripts associated with this gene.

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