Product Details

SNP ID
rs200091857
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:96342766 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTTCTGTTTTCAGAAAATCACTA[C/T]CAAGAATGCTTTTGGTTTGCACTTG
Phenotype
MIM: 602332
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NCAPH PubMed Links

Gene Details

Gene
NCAPH
Gene Name
non-SMC condensin I complex subunit H
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281710.1 391 Missense Mutation ACC,ATC T114I NP_001268639.1
NM_001281711.1 391 Missense Mutation ACC,ATC T101I NP_001268640.1
NM_001281712.1 391 UTR 5 NP_001268641.1
NM_015341.4 391 Missense Mutation ACC,ATC T125I NP_056156.2
XM_005263908.3 391 Missense Mutation ACC,ATC T125I XP_005263965.1
XM_006712388.3 391 Missense Mutation ACC,ATC T125I XP_006712451.1

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