Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCAGTCATGGTAAACCAGGAGAAAC[A/G]TGGACTTCAGGAACTCTTTGTCTCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 602022 MIM: 607100 | ||||||||||||||||||||
Literature Links: |
MALL 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 |
MALL - mal, T-cell differentiation protein like | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
NPHP1 - nephrocystin 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000272.3 | 2245 | Missense Mutation | ACG,ATG | T,M 652 | NP_000263.2 | |
NM_001128178.1 | 2245 | Missense Mutation | ACG,ATG | T,M 596 | NP_001121650.1 | |
NM_001128179.1 | 2245 | Missense Mutation | ACG,ATG | T,M 533 | NP_001121651.1 | |
NM_207181.2 | 2245 | Missense Mutation | ACG,ATG | T,M 651 | NP_997064.2 | |
XM_005263676.1 | 2245 | Missense Mutation | ACG,ATG | T,M 631 | XP_005263733.1 | |
XM_005263677.1 | 2245 | Missense Mutation | ACG,ATG | T,M 630 | XP_005263734.1 | |
XM_005263678.2 | 2245 | UTR 3 | XP_005263735.1 | |||
XM_005263679.1 | 2245 | Missense Mutation | ACG,ATG | T,M 595 | XP_005263736.1 | |
XM_006712551.1 | 2245 | Missense Mutation | ACG,ATG | T,M 687 | XP_006712614.1 | |
XM_006712552.2 | 2245 | Intron | XP_006712615.1 | |||
XM_011511244.1 | 2245 | UTR 3 | XP_011509546.1 | |||
XM_017004218.1 | 2245 | UTR 3 | XP_016859707.1 |