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CTGGTGACAGCAGAGCTTGGAGGGC[A/G]CCCTGGTTTTCTTGGTTTTGCTTAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602022 MIM: 607100 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MALL PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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MALL - mal, T-cell differentiation protein like | ||||||
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There are no transcripts associated with this gene. |
NPHP1 - nephrocystin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000272.3 | 2191 | Silent Mutation | GGC,GGT | G,G 700 | NP_000263.2 | |
NM_001128178.1 | 2191 | Silent Mutation | GGC,GGT | G,G 644 | NP_001121650.1 | |
NM_001128179.1 | 2191 | Silent Mutation | GGC,GGT | G,G 581 | NP_001121651.1 | |
NM_207181.2 | 2191 | Silent Mutation | GGC,GGT | G,G 699 | NP_997064.2 | |
XM_005263676.1 | 2191 | Silent Mutation | GGC,GGT | G,G 679 | XP_005263733.1 | |
XM_005263677.1 | 2191 | Silent Mutation | GGC,GGT | G,G 678 | XP_005263734.1 | |
XM_005263678.2 | 2191 | UTR 3 | XP_005263735.1 | |||
XM_005263679.1 | 2191 | Silent Mutation | GGC,GGT | G,G 643 | XP_005263736.1 | |
XM_006712551.1 | 2191 | Silent Mutation | GGC,GGT | G,G 735 | XP_006712614.1 | |
XM_006712552.2 | 2191 | Intron | XP_006712615.1 | |||
XM_011511244.1 | 2191 | Intron | XP_011509546.1 | |||
XM_017004218.1 | 2191 | UTR 3 | XP_016859707.1 |