Product Details

SNP ID

rs6039932

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:10434849 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGTTATGTTCAAACATGGCTATTTT[C/T]ATTAAAATTTATCCGGCACTGTGAA

Phenotype

MIM: 604896 MIM: 615958

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MKKS PubMed Links

Gene Details

Gene

MKKS

Gene Name

McKusick-Kaufman syndrome

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018848.3	397	Intron			NP_061336.1
NM_170784.2	397	Intron			NP_740754.1

Gene

SLX4IP

Gene Name

SLX4 interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009608.2	397	Intron			NP_001009608.1
XM_017027647.1	397	Intron			XP_016883136.1
XM_017027648.1	397	UTR 5			XP_016883137.1
XM_017027649.1	397	Intron			XP_016883138.1
XM_017027650.1	397	UTR 5			XP_016883139.1
XM_017027651.1	397	Intron			XP_016883140.1
XM_017027652.1	397	UTR 5			XP_016883141.1
XM_017027653.1	397	Intron			XP_016883142.1

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