Product Details

SNP ID
rs191524819
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219238272 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCCCATCCACCATCACATAGGCA[C/T]GGTCATGGACTCCATTATTTGGCAC
Phenotype
MIM: 612204 MIM: 604719
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ANKZF1 PubMed Links

Gene Details

Gene
ANKZF1
Gene Name
ankyrin repeat and zinc finger domain containing 1
There are no transcripts associated with this gene.

Gene
ATG9A
Gene Name
autophagy related 9A
There are no transcripts associated with this gene.

Gene
GLB1L
Gene Name
galactosidase beta 1 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286423.1 1107 Missense Mutation CAT,CGT H440R NP_001273352.1
NM_001286427.1 1107 Missense Mutation CAT,CGT H350R NP_001273356.1
NM_024506.4 1107 Missense Mutation CAT,CGT H440R NP_078782.3
XM_011511813.2 1107 Missense Mutation CAT,CGT H197R XP_011510115.1
XM_017004895.1 1107 Missense Mutation CAT,CGT H350R XP_016860384.1
Gene
STK16
Gene Name
serine/threonine kinase 16
There are no transcripts associated with this gene.

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