Product Details

SNP ID
rs144326666
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:12153565 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTTCCTGAGAGGCAGGTGGCCCC[A/G]GTACCAGCTGCAGGTGCCGTCAACA
Phenotype
MIM: 600755 MIM: 601915
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SYN2 PubMed Links

Gene Details

Gene
SYN2
Gene Name
synapsin II
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003178.5 1136 Intron NP_003169.2
NM_133625.4 1136 Intron NP_598328.1
XM_006713311.3 1136 Intron XP_006713374.1
XM_006713312.3 1136 Intron XP_006713375.1
XM_006713313.2 1136 Intron XP_006713376.1
XM_017007087.1 1136 Intron XP_016862576.1
Gene
TIMP4
Gene Name
TIMP metallopeptidase inhibitor 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003256.3 1136 Missense Mutation CGG,TGG R209W NP_003247.1

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