Product Details

SNP ID

rs111782520

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:240719045 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGGTCCTCACTGTACTCCACCTG[G/T]GCAGTGGCCAGGTTGAGCACGAACC

Phenotype

MIM: 601255

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KIF1A PubMed Links

Gene Details

Gene

KIF1A

Gene Name

kinesin family member 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001244008.1	5033	Silent Mutation	GCA,GCC	A1725A	NP_001230937.1
NM_001320705.1	5033	Silent Mutation	GCA,GCC	A1633A	NP_001307634.1
XM_005247022.1	5033	Silent Mutation	GCA,GCC	A1734A	XP_005247079.1
XM_005247024.1	5033	Silent Mutation	GCA,GCC	A1725A	XP_005247081.1
XM_005247027.1	5033	Silent Mutation	GCA,GCC	A1632A	XP_005247084.1
XM_005247028.2	5033	Silent Mutation	GCA,GCC	A1624A	XP_005247085.1
XM_006712605.1	5033	Silent Mutation	GCA,GCC	A1716A	XP_006712668.1
XM_011511364.1	5033	Silent Mutation	GCA,GCC	A1734A	XP_011509666.1
XM_011511365.1	5033	Silent Mutation	GCA,GCC	A1642A	XP_011509667.1
XM_011511366.2	5033	Silent Mutation	GCA,GCC	A1399A	XP_011509668.1
XM_011511367.1	5033	Silent Mutation	GCA,GCC	A1399A	XP_011509669.1
XM_017004383.1	5033	Silent Mutation	GCA,GCC	A1759A	XP_016859872.1
XM_017004384.1	5033	Silent Mutation	GCA,GCC	A1759A	XP_016859873.1
XM_017004385.1	5033	Silent Mutation	GCA,GCC	A1758A	XP_016859874.1
XM_017004386.1	5033	Silent Mutation	GCA,GCC	A1750A	XP_016859875.1
XM_017004387.1	5033	Silent Mutation	GCA,GCC	A1667A	XP_016859876.1
XM_017004388.1	5033	Silent Mutation	GCA,GCC	A1666A	XP_016859877.1
XM_017004389.1	5033	Silent Mutation	GCA,GCC	A1658A	XP_016859878.1
XM_017004390.1	5033	Silent Mutation	GCA,GCC	A1633A	XP_016859879.1
XM_017004391.1	5033	Silent Mutation	GCA,GCC	A1733A	XP_016859880.1

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