Transcript #00000024 (NM_006262.3, PRPH gene)

Transcript name peripherin
Gene name PRPH (peripherin)
Chromosome 12
Transcript - NCBI ID NM_006262.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_006253.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

14 entries on 1 page. Showing entries 1 - 14.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
./. 1 c.26G>A r.(?) p.(Arg9Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
+?/. 1 c.398G>C r.(?) p.(Arg133Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 1 c.421G>T r.(?) p.(Asp141Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 1 c.421G>T r.(?) p.(Asp141Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
+?/. 1 c.421G>T r.(?) p.(Asp141Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 1i c.545+69G>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -
./. 1i c.546-78A>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -
./. 3i c.702+27T>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
./. 4 c.829G>A r.(?) p.(Ala277Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 6i c.1217+27C>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -
./. 6i c.1217+43C>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -
./. 7i c.1267+58T>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
./. 8 c.1348-36_1348-35insA r.(=) p.(=) VariO:0142 DNA insertion -
./. 9i c.*695T>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -
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