Product Details

SNP ID
rs143124626
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:94014646 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGTCTCTGTTCAATCTCTGAAAG[A/T]TGTGCTTTAGTGATATTGATTTCTG
Phenotype
MIM: 608922
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ARL13B PubMed Links

Gene Details

Gene
ARL13B
Gene Name
ADP ribosylation factor like GTPase 13B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001174150.1 881 Intron NP_001167621.1
NM_001174151.1 881 Intron NP_001167622.1
NM_001321328.1 881 Intron NP_001308257.1
NM_144996.3 881 Intron NP_659433.2
NM_182896.2 881 Intron NP_878899.1
XM_006713532.3 881 Intron XP_006713595.1
XM_011512532.2 881 Intron XP_011510834.1
XM_011512533.2 881 Intron XP_011510835.1
XM_011512534.2 881 Intron XP_011510836.1
XM_011512535.2 881 Intron XP_011510837.1
XM_017005853.1 881 Intron XP_016861342.1
Gene
STX19
Gene Name
syntaxin 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001850.2 881 Missense Mutation CAA,CAT Q208H NP_001001850.1
XM_011512842.2 881 Missense Mutation CAA,CAT Q208H XP_011511144.1

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