split hand/foot malformation (ectrodactyly) type 1 [Source:HGNC Symbol;Acc:10845]
DSS1, ECD, SEM1, SHFD1, SHFDG1, SHSF1, Shfdg1
Chromosome 7: 96,279,527-96,339,170 reverse strand.
This transcript has 3 exons, is annotated with 5 domains and features, is associated with 23854 variant alleles and maps to 206 oligo probes.
This transcript is a product of gene ENSG00000127922.5 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000248566.2 | SHFM1-003 | 807 | 70aa | ENSP00000248566.2 | Protein coding | CCDS5646 | P60896 Q6IBB7 | NM_006304.1 | Ensembl Canonical, GENCODE basic, |
ENST00000413065.1 | SHFM1-006 | 661 | 89aa | ENSP00000409481.1 | Protein coding | F2Z309 | - | GENCODE basic, | |
ENST00000444799.1 | SHFM1-007 | 570 | 62aa | ENSP00000390049.1 | Protein coding | F2Z2L7 | - | GENCODE basic, | |
ENST00000417009.1 | SHFM1-008 | 350 | 65aa | ENSP00000416322.1 | Protein coding | F2Z2N6 | - | GENCODE basic, | |
ENST00000449279.1 | SHFM1-004 | 699 | 89aa | ENSP00000392852.1 | Nonsense mediated decay | F2Z309 | - | - | |
ENST00000493858.1 | SHFM1-001 | 2707 | No protein | - | Processed transcript | - | - | - | |
ENST00000488005.1 | SHFM1-005 | 775 | No protein | - | Processed transcript | - | - | - | |
ENST00000466986.1 | SHFM1-002 | 507 | No protein | - | Processed transcript | - | - | - | |
ENST00000476463.1 | SHFM1-009 | 427 | No protein | - | Processed transcript | - | - | - | |
ENST00000482389.1 | SHFM1-010 | 2773 | No protein | - | Retained intron | - | - | - |