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Sequence in raw or FASTA format:

Database:

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MKS1 Meckel syndrome, type 1 [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_001165927 Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 2, mRNA. ORF Sequence $478.50
Peptide Services
Antibody Services
Protein Services
NM_017777 Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA. ORF Sequence $487.20
Peptide Services
Antibody Services
Protein Services


Gene Symbol MKS1
Entrez Gene ID 54903
Full Name Meckel syndrome, type 1
Synonyms BBS13, FLJ20345, MES, MKS, POC12
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17q22

Summary The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009].
Disorder

MIM: 609883

Meckel syndrome, type 1, 249000 (3); Bardet-Biedl syndrome 13,

mRNA Protein Product Sequence Price Select
NM_001165927, 260064076 NP_001159399, 260064077 Meckel syndrome type 1 protein isoform 2 Full Length $695.13
ORF Sequence $478.50
NM_017777, 260064073 NP_060247, 89242137 Meckel syndrome type 1 protein isoform 1 Full Length $698.32
ORF Sequence $487.20
Homo sapiens (human)MKS1NP_060247.2
Pan troglodytes (chimpanzee)MKS1XP_001172592.1
Canis lupus familiaris (dog)LOC100855916XP_003639341.1
Bos taurus (cattle)MKS1NP_001026936.2
Mus musculus (house mouse)Mks1NP_001034773.2
Rattus norvegicus (Norway rat)Mks1NP_001030089.2
Gallus gallus (chicken)MKS1XP_415705.3
Danio rerio (zebrafish)mks1NP_001070841.2
GeneCards MKS1
UniProt Q9NXB0
MIM 609883
Ensembl ENSG00000011143
HGNC 7121
HPRD 07900

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
Meckel syndrome type 1 protein
Names
Meckel syndrome type 1 protein
FABB proteome-like protein
POC12 centriolar protein homolog

Interactant

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