Product Details

SNP ID
rs141726468
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:35558191 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCCGCCCTGTCGTGACTTCATCA[A/G]TGTCGTGTTGTGACCTGGCTGCGGC
Phenotype
MIM: 613535 MIM: 608458
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KIAA0319L PubMed Links

Gene Details

Gene
KIAA0319L
Gene Name
KIAA0319 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024874.4 128 Intron NP_079150.3
XM_006710907.1 128 Intron XP_006710970.1
XM_006710909.1 128 Intron XP_006710972.1
XM_006710910.1 128 Intron XP_006710973.1
XM_011542179.2 128 Intron XP_011540481.1
XM_011542180.1 128 Intron XP_011540482.1
XM_017002366.1 128 Intron XP_016857855.1
XM_017002367.1 128 Intron XP_016857856.1
XM_017002368.1 128 Intron XP_016857857.1
XM_017002369.1 128 Intron XP_016857858.1
XM_017002370.1 128 Intron XP_016857859.1
XM_017002371.1 128 Intron XP_016857860.1
XM_017002372.1 128 Intron XP_016857861.1
XM_017002373.1 128 Intron XP_016857862.1
XM_017002374.1 128 Intron XP_016857863.1
XM_017002375.1 128 Intron XP_016857864.1
XM_017002376.1 128 Intron XP_016857865.1
XM_017002377.1 128 Intron XP_016857866.1
XM_017002378.1 128 Intron XP_016857867.1
Gene
NCDN
Gene Name
neurochondrin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001014839.1 128 Missense Mutation ATG,GTG M1V NP_001014839.1
NM_001014841.1 128 Intron NP_001014841.1
NM_014284.2 128 Missense Mutation ATG,GTG M1V NP_055099.1

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