Product Details

SNP ID
rs113411292
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:113589715 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTGCGTTGGCCAGTTCCGCAGCC[C/T]GCCGAGCCATTTCCACTTTGTAGGA
Phenotype
MIM: 603924 MIM: 602873
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HABP2 PubMed Links

Gene Details

Gene
HABP2
Gene Name
hyaluronan binding protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001177660.2 4891 Intron NP_001171131.1
NM_004132.4 4891 Intron NP_004123.1
Gene
NRAP
Gene Name
nebulin related anchoring protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001261463.1 4891 Missense Mutation NP_001248392.1
NM_001322945.1 4891 Missense Mutation NP_001309874.1
NM_006175.4 4891 Missense Mutation NP_006166.3
NM_198060.3 4891 Missense Mutation NP_932326.2
XM_005269864.2 4891 Missense Mutation XP_005269921.1
XM_005269865.2 4891 Missense Mutation XP_005269922.1
XM_005269867.2 4891 Missense Mutation XP_005269924.1
XM_006717870.2 4891 Missense Mutation XP_006717933.1
XM_011539832.2 4891 Missense Mutation XP_011538134.1

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