Product Details

SNP ID
rs200472543
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:20722820 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGGGCACCACGCCGCACTGCGTG[C/T]GCACGGACAGACACCACTGGCCGCT
Phenotype
MIM: 605037
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KIF17 PubMed Links

Gene Details

Gene
KIF17
Gene Name
kinesin family member 17
There are no transcripts associated with this gene.

Gene
SH2D5
Gene Name
SH2 domain containing 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001103160.1 1084 Missense Mutation CAC,CGC H251R NP_001096630.1
NM_001103161.1 1084 Missense Mutation CAC,CGC H335R NP_001096631.1
XM_011541459.1 1084 Missense Mutation CAC,CGC H335R XP_011539761.1
XM_011541460.1 1084 Missense Mutation CAC,CGC H335R XP_011539762.1
XM_011541461.2 1084 Missense Mutation CAC,CGC H335R XP_011539763.1
XM_011541462.1 1084 Missense Mutation CAC,CGC H334R XP_011539764.1

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