Product Details

SNP ID
rs116730273
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:70807800 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCACGATGATGGAGAAGGTCACC[A/G]TGTGATAGAAGACATTCTTGAAGGG
Phenotype
MIM: 610812 MIM: 604632
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HYDIN PubMed Links

Gene Details

Gene
HYDIN
Gene Name
HYDIN, axonemal central pair apparatus protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198542.1 15359 Intron NP_001185471.1
NM_001198543.1 15359 Intron NP_001185472.1
NM_001270974.2 15359 Missense Mutation NP_001257903.1
NM_017558.4 15359 Intron NP_060028.2
XM_006721206.2 15359 Missense Mutation XP_006721269.1
XM_011523146.2 15359 Missense Mutation XP_011521448.1
XM_011523147.1 15359 Missense Mutation XP_011521449.1
XM_011523148.1 15359 Missense Mutation XP_011521450.1
XM_011523151.1 15359 Missense Mutation XP_011521453.1
XM_011523152.1 15359 Missense Mutation XP_011521454.1
XM_011523155.2 15359 Missense Mutation XP_011521457.1
XM_017023346.1 15359 Missense Mutation XP_016878835.1
XM_017023347.1 15359 Missense Mutation XP_016878836.1
XM_017023348.1 15359 Missense Mutation XP_016878837.1
Gene
VAC14
Gene Name
Vac14, PIKFYVE complex component
There are no transcripts associated with this gene.

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