Product Details

SNP ID
rs146465683
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:81875974 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCACGCTGGGCTCCCGACCCCCG[C/G]TGCCAGGAACTCCAAGTACCCAGGC
Phenotype
MIM: 605533
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
NRG3 PubMed Links

Gene Details

Gene
NRG3
Gene Name
neuregulin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001010848.3 664 Missense Mutation CTG,GTG L212V NP_001010848.2
NM_001165972.1 664 Missense Mutation CTG,GTG L212V NP_001159444.1
NM_001165973.1 664 Intron NP_001159445.1
XM_005269444.4 664 Missense Mutation CTG,GTG L212V XP_005269501.1
XM_011539172.2 664 Missense Mutation CTG,GTG L212V XP_011537474.1
XM_011539173.2 664 Missense Mutation CTG,GTG L212V XP_011537475.1
XM_011539175.2 664 Missense Mutation CTG,GTG L212V XP_011537477.1
XM_011539178.2 664 Intron XP_011537480.1
XM_017015573.1 664 Missense Mutation CTG,GTG L212V XP_016871062.1
XM_017015574.1 664 Missense Mutation CTG,GTG L212V XP_016871063.1
XM_017015575.1 664 Missense Mutation CTG,GTG L212V XP_016871064.1
XM_017015576.1 664 Missense Mutation CTG,GTG L212V XP_016871065.1
XM_017015577.1 664 Missense Mutation CTG,GTG L212V XP_016871066.1
XM_017015578.1 664 Missense Mutation CTG,GTG L212V XP_016871067.1
XM_017015579.1 664 Missense Mutation CTG,GTG L212V XP_016871068.1
XM_017015580.1 664 Missense Mutation CTG,GTG L212V XP_016871069.1
XM_017015581.1 664 Missense Mutation CTG,GTG L212V XP_016871070.1
XM_017015582.1 664 Intron XP_016871071.1
XM_017015583.1 664 Intron XP_016871072.1
XM_017015584.1 664 Missense Mutation CTG,GTG L212V XP_016871073.1

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