Product Details

SNP ID
rs142241166
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:85634094 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTTTTTTTCTATTAGGACACAAA[A/C]TATATATCAAATGGCGACATTTGGA
Phenotype
MIM: 603583 MIM: 615533
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
DLG2 PubMed Links

Gene Details

Gene
DLG2
Gene Name
discs large MAGUK scaffold protein 2
There are no transcripts associated with this gene.

Gene
TMEM126B
Gene Name
transmembrane protein 126B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193537.2 419 Missense Mutation AAT,ACT N51T NP_001180466.1
NM_001193538.2 419 Missense Mutation AAT,ACT N41T NP_001180467.1
NM_001256546.1 419 Missense Mutation AAT,ACT N41T NP_001243475.1
NM_001256547.1 419 Missense Mutation AAT,ACT N25T NP_001243476.1
NM_018480.4 419 Missense Mutation AAT,ACT N71T NP_060950.3
XM_011545165.2 419 Missense Mutation AAT,ACT N41T XP_011543467.1

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