Product Details

SNP ID
rs112950559
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:26995705 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTTCATAGGTTTCTGCTTCATGC[C/T]CTTCCAGGCGATGATGATTATAACT
Phenotype
MIM: 608040
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IFT74 PubMed Links

Gene Details

Gene
IFT74
Gene Name
intraflagellar transport 74
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099222.1 1040 Intron NP_001092692.1
NM_001099223.1 1040 Intron NP_001092693.1
NM_001099224.1 1040 Intron NP_001092694.1
NM_025103.2 1040 Intron NP_079379.2
XM_011518035.2 1040 Intron XP_011516337.1
XM_011518036.2 1040 Intron XP_011516338.1
XM_017015163.1 1040 Intron XP_016870652.1
XM_017015164.1 1040 Intron XP_016870653.1
Gene
LRRC19
Gene Name
leucine rich repeat containing 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022901.2 1040 Missense Mutation GAG,GGG E310G NP_075052.1

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