Product Details

SNP ID
rs201941539
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:139848616 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCCGAGTTGGGGGACGTGATCTC[G/T]AAAGTTGGCACCTGCGTGGCCAGCG
Phenotype
MIM: 603818
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
NRG2 PubMed Links

Gene Details

Gene
NRG2
Gene Name
neuregulin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184935.1 1144 Missense Mutation TTA,TTC L552F NP_001171864.1
NM_004883.2 1144 Missense Mutation TTA,TTC L618F NP_004874.1
NM_013981.3 1144 Missense Mutation TTA,TTC L612F NP_053584.1
NM_013982.2 1144 Missense Mutation TTA,TTC L626F NP_053585.1
NM_013983.2 1144 Missense Mutation TTA,TTC L620F NP_053586.1
XM_005268533.3 1144 Missense Mutation TTA,TTC L227F XP_005268590.1
XM_006714810.3 1144 Intron XP_006714873.1
XM_011537713.2 1144 Intron XP_011536015.1
XM_017010064.1 1144 Missense Mutation TTA,TTC L238F XP_016865553.1
XM_017010065.1 1144 Missense Mutation TTA,TTC L235F XP_016865554.1
XM_017010066.1 1144 Intron XP_016865555.1
Gene
PSD2
Gene Name
pleckstrin and Sec7 domain containing 2
There are no transcripts associated with this gene.

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