Product Details

SNP ID
rs114812819
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:101164138 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTCGGGAAGGGGCCCGCTGTCGG[A/G]CATACGCGCCTGGAATTGAGAGGGG
Phenotype
MIM: 603531 MIM: 615783 MIM: 602186
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AP1S1 PubMed Links

Gene Details

Gene
AP1S1
Gene Name
adaptor related protein complex 1 sigma 1 subunit
There are no transcripts associated with this gene.

Gene
MIR4653
Gene Name
microRNA 4653
There are no transcripts associated with this gene.

Gene
NAT16
Gene Name
N-acetyltransferase 16 (putative)
There are no transcripts associated with this gene.

Gene
VGF
Gene Name
VGF nerve growth factor inducible
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003378.3 924 Missense Mutation CCC,TCC P236S NP_003369.2
XM_005250561.4 924 Missense Mutation CCC,TCC P236S XP_005250618.1
XM_011516549.2 924 Missense Mutation CCC,TCC P236S XP_011514851.1
XM_017012579.1 924 Missense Mutation CCC,TCC P236S XP_016868068.1

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