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Gene ENSMUSG00000033933 (Vhlh)
Chromosomal location
Chr 6: 113573995 - 113581625 (+)
Description
von Hippel-Lindau syndrome Gene [Source:MGI (curated);Acc:Vhlh-001]
RefSeq_dna
NM_009507 
RefSeq_peptide
NP_033533.1 
UniGene
Mm.29407 
MGI
MGI:103223 
Uniprot/SWISSPROT
P40338 
Uniprot/SPTREMBL
Q3TTE7 
Human Ortholog
ENSG00000189030 (VHLL)
Omim 144700 - RENAL CELL CARCINOMA 1  171300 - PHEOCHROMOCYTOMA  193300 - VON HIPPEL-LINDAU SYNDROME  263400 - ERYTHROCYTOSIS, FAMILIAL, 2  
UniTrap UNI18813
Vector Insertion
Chr 6: 113574373 - 113578085
Public Clones not available
Private Clones OST413739 (lexicon)
Severity of mutation (?) Insertion after 44% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

Show all transcripts and translations:
Transcript ENSMUST00000035673
Sequence
GGGCTCCCGGCGGCCATTTCCGCCTTCAAGTTGCCCGGAGCGCGTCTGGGACCGGCAGACCTGTCCCGGAGCGCGTAGATCCGCACGCACGCACGCGCCG

CCCACGTCCAGCTTGCGAATCCGAGGGACCCGTTCCAATAATGCCCCGGAAGGCAGCCAGTCCAGAGGAGGCGGCGGGGGAGCCCGGTCCTGAGGAGATG

GAGGCTGGGCGGCCGCGGCCGGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCTCAGGTCATCTTCTGCAACCGCAGCCCGCGCGTCGTGCTGCCTTTGT

GGCTCAACTTCGACGGCGAGCCTCAGCCCTACCCGATCTTACCACCGGGCACCGGCCGCCGCATCCACAGCTACCGAG - UNI18813 - GTCATCTT

TGGCTCTTCAGGGATGCGGGGACCCATGATGGACTTCTGGTTAACCAAACGGAGCTGTTTGTGCCATCCCTCAATGTCGATGGACAGCCTATTTTTGCCA

ACATCACATTGCCAG TGTATACCCTGAAAGAGCGGTGCCTTCAGGTTGTGCGGAGCCTGGTCAAGCCTGAGAACTACAGGAGACTGGACATCGTCAGGT

CACTCTATGAGGATTTGGAGGACTACCCAAGTGTGCGGAAGGACATACAGCGACTGAGCCAAGAGCACCTTGAGAGTCAGCACCTGGAAGAGGAGCCTTG

AAGGAGTCCATGGAGATTAAGTGTTCCTGAGTTTCAGCCTTGATGGTCCGAGATTGATCTACACATAGGACAGGTCACTTTCTTTCAGTTTTAAAATGGT

TCATTCTTGGAGTAAAACTATCCATCACGTAAAAGAAAGTTAACTAACATCCCTGGGCTTTGTAGTGTTTAAGAATAAACATGCAAAGTGCCACTGCGTC

TGCCCTTTGTAGAGCACTCACCCGAGGGAGGAAGACGTTTTCAGTTTTGCTTCCTGGTGAGGCTGGAAGTTGAGTGTAAGGATGACTGTGTAATAAGCTC

AGCAGCAGGAGTTGTACTGTGTCCTTTCATTTGAGCAGAGGGCTCTTGCTTGGGAAGGCAGAGAAGGCCCTTCCCAAACGCTGGGACAGACCTCCTGTGG

AGGCCCGCTGCCTAAAGCGTGGAGTCTTCAGTCATGAATGTTGGACGAAGAAACCATTGGATGCTTGGTGGGAGAGTTGGGAGGGCCTGGCTCTTTGTCT

GAGGAGAGCCTTAAGTGTTCATGTAAGGAACAGCTTAGCAGCTTCTGATTTCCCACGTCCCAGCACTTTCTCTCTGTTTTTTATTTTATTTTTGAGACTT

TTGTATAGCCCAGGCCAGCCTCAGTCACTCAGCAGAGGATTCCTGACCCTCTGGGATTATGTCTCCTGACATTGGGAACACATGTGTGCACACAGCCTGC

TCTGCTCTTCCTTTTCCCATGTTGAGACGGGCTCCTGCTGTAGTCCTGCCTGGCCTGAGCTGGAGTCGGTCCTGCCTCCTGACCGACCGTCTGGCTGCTT

TCTAAGCTGGGTAGACTTCCCATACTCACTGTTACAGACAGTTACAGCAGAGAAGAACCATCCTTGTGTAAGTCTGGTTTTGAGAGCTCCTGTCTCTGAG

GAAGCTGTTGGCAGGAGCAGGGATTTCTGTTCCTTCTTGTCAGCCCCTAGCATTCCACTTTGTTTTGGCAGGCGCTGGTTCTGCTTTGTAGGTGGAAGTG

AAGCTCCACTCAGCCACAGACTCCAGACAGTGGGTCACAGAGCAGTCTGGAATGTGTAGCAGTCTTATGGATGGTCACAGCTTTTCTTACATATTCATAT

TCTATCAAACGTTTTGTAAAGTATAATTTTTTATTTATTTTTAATCCCCTTAGAGAAAAAGTAAAAGTAGAGAAGCCTGGGTATTGTGTACACAACAGAA

AGGACAGTCAAGGAAAGGGAAGCAGAAAGGCTCTTATGTACTCTCAGCTTCATGCAACCCCTGTAACTGGCCGCATATGTAGGGCATATTTTAATTGGTT

AAAGCAGTTTGTTGTGGCTGAGGTCATAAGATATATACAGTTTTGTATCCTGATTTTTCACTGAACTTCATTGTTTTTTGTTTGCTTGCTTTTCCCTTCT

TCTTTGTTTTTTGCTTTATTGAGATAGGGTTTCTCTGTAGCCCAGGCTGTCCTAGAACTCCCTTTGTAGACCAAACATCTGATTACTGGCCTCACATGGA

GAGATCTGTCTCTGCTTTTCCAGCGCTGGGATTGAAGTAGGCCTAATCTTCATCTAACTTCTTAGCTTGTCTTTTCCATGTTACTACACACACTGTGTAA

ATACCAGTGTGCTACCCTCCTTCTTTGAGGGTGACTGTTGGGAGTATTTGTCCAAATCCTGGGCTCCTTGAGTGCAGACTGATGCTCTAAGATCAGCAAA

ATGACTGAACTACATCCTAACACTTCCCAGTGTCCTCTCAGTGTCTCTTCTTATCTGCAGCATTGCAGGAGTGAAGTGGCCACAGACCAGTGTGGAGGCC

TGTGTGTGGGAAGTCAGCAGGTGCCAAGCTATTGAAACATTGGTTTTATTTTTTTAAACCGATCTCTGTCTCTAAAAGATGTGATGTTTGTGTTATTCAG

CTGGAAGTTTGAATACTGTTCTCTGTGCTGTCCAACAAGTGAAGAGTTATGAAATGAGCCACTTGTCCTGGGACATCCTGTAATGAGTTCCTCGGGCTTT

TCTCCTGTGAGTTTTCTGAAAAAAGCTGACCTTTTTAGTACAATAAACGGTGCTAATTGAAGG
Translation
MPRKAASPEEAAGEPGPEEMEAGRPRPVLRSVNSREPSQVIFCNRSPRVVLPLWLNFDGEPQPYPILPPGTGRRIHSYRG - UNI18813 - GHLWLF

RDAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPV VYTLKERCLQVVRSLVKPENYRRLDIVRSLYEDLEDYPSVRKDIQRLSQEHLESQHLEEEP

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