Product Details

SNP ID
rs116975239
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:10441649 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCAATGTTTGACTTACATTTAGT[A/G]ACAAAGGATTTTTAAAAGTTCTAAT
Phenotype
MIM: 604896 MIM: 615958
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MKKS PubMed Links

Gene Details

Gene
MKKS
Gene Name
McKusick-Kaufman syndrome
There are no transcripts associated with this gene.

Gene
SLX4IP
Gene Name
SLX4 interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001009608.2 Intron NP_001009608.1
XM_017027647.1 Intron XP_016883136.1
XM_017027648.1 Intron XP_016883137.1
XM_017027649.1 Intron XP_016883138.1
XM_017027650.1 Intron XP_016883139.1
XM_017027651.1 Intron XP_016883140.1
XM_017027652.1 Intron XP_016883141.1
XM_017027653.1 Intron XP_016883142.1

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