Product Details

SNP ID
rs140868942
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:96344209 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAACATAAACAACCTCAATGTCTCC[A/G]AAGCAGATCGGAAGTGTGAGGTGAG
Phenotype
MIM: 602332
Polymorphism
A/G, 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_001281710.1 717 Missense Mutation AAA,GAA K223E NP_001268639.1
NM_001281711.1 717 Missense Mutation AAA,GAA K210E NP_001268640.1
NM_001281712.1 717 Missense Mutation AAA,GAA K98E NP_001268641.1
NM_015341.4 717 Missense Mutation AAA,GAA K234E NP_056156.2
XM_005263908.3 717 Missense Mutation AAA,GAA K234E XP_005263965.1
XM_006712388.3 717 Missense Mutation AAA,GAA K234E XP_006712451.1

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