Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGGCTCAGGGCCCTCTGGTGGGGCC[A/G]AGTCACACTCCAGCAGGGTGATGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 604722 MIM: 608052 | ||||||||||||||||||||
Literature Links: |
SH2D3C PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
SH2D3C - SH2 domain containing 3C | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142531.1 | 1920 | Missense Mutation | TCG,TTG | S,L 403 | NP_001136003.1 | |
NM_001142532.1 | 1920 | Missense Mutation | TCG,TTG | S,L 403 | NP_001136004.1 | |
NM_001142533.1 | 1920 | Missense Mutation | TCG,TTG | S,L 599 | NP_001136005.1 | |
NM_001142534.1 | 1920 | Missense Mutation | TCG,TTG | S,L 597 | NP_001136006.1 | |
NM_001252334.1 | 1920 | Missense Mutation | TCG,TTG | S,L 689 | NP_001239263.1 | |
NM_005489.3 | 1920 | Missense Mutation | TCG,TTG | S,L 600 | NP_005480.2 | |
NM_170600.2 | 1920 | Missense Mutation | TCG,TTG | S,L 757 | NP_733745.1 | |
XM_005251639.1 | 1920 | Missense Mutation | TCG,TTG | S,L 403 | XP_005251696.1 | |
XM_011518114.1 | 1920 | Missense Mutation | TCG,TTG | S,L 701 | XP_011516416.1 | |
XM_011518115.1 | 1920 | Missense Mutation | TCG,TTG | S,L 701 | XP_011516417.1 | |
XM_011518117.2 | 1920 | Missense Mutation | TCG,TTG | S,L 403 | XP_011516419.1 | |
XM_017014174.1 | 1920 | Missense Mutation | TCG,TTG | S,L 403 | XP_016869663.1 |
TOR2A - torsin family 2 member A | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
TTC16 - tetratricopeptide repeat domain 16 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |