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CGCGCGGGCGTGGTCAGGGCCGACA[A/C]GTACCTGCGGGGAGAGGCAGAGGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603818 | ||||||||||||||||||||
Literature Links: |
NRG2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
NRG2 - neuregulin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001184935.1 | 1067 | Missense Mutation | ATG,CTG | M,L 527 | NP_001171864.1 | |
NM_004883.2 | 1067 | Missense Mutation | ATG,CTG | M,L 593 | NP_004874.1 | |
NM_013981.3 | 1067 | Missense Mutation | ATG,CTG | M,L 587 | NP_053584.1 | |
NM_013982.2 | 1067 | Missense Mutation | ATG,CTG | M,L 601 | NP_053585.1 | |
NM_013983.2 | 1067 | Missense Mutation | ATG,CTG | M,L 595 | NP_053586.1 | |
XM_005268533.3 | 1067 | Missense Mutation | ATG,CTG | M,L 202 | XP_005268590.1 | |
XM_006714810.3 | 1067 | Intron | XP_006714873.1 | |||
XM_011537713.2 | 1067 | Intron | XP_011536015.1 | |||
XM_017010064.1 | 1067 | Missense Mutation | ATG,CTG | M,L 213 | XP_016865553.1 | |
XM_017010065.1 | 1067 | Missense Mutation | ATG,CTG | M,L 210 | XP_016865554.1 | |
XM_017010066.1 | 1067 | Intron | XP_016865555.1 |
PSD2 - pleckstrin and Sec7 domain containing 2 | ||||||
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There are no transcripts associated with this gene. |