Product Details

SNP ID
rs201096048
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:34539544 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAGTGAATCGCCCCAGGTGAAGTC[C/T]GCTCTTTCATCCAGGCCGCTGCAGG
Phenotype
MIM: 606512 MIM: 608144
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
PACSIN1 PubMed Links

Gene Details

Gene
PACSIN1
Gene Name
protein kinase C and casein kinase substrate in neurons 1
There are no transcripts associated with this gene.

Gene
SPDEF
Gene Name
SAM pointed domain containing ETS transcription factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001252294.1 1779 Intron NP_001239223.1
NM_012391.2 1779 Missense Mutation CAG,CGG Q218R NP_036523.1
XM_005248988.4 1779 Missense Mutation CAG,CGG Q290R XP_005249045.2
XM_011514457.2 1779 Intron XP_011512759.1

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