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SNP ID
rs146955659
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:5821843 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCGCCTGGGATTGTTGTCATCTA[G/T]CTGGGCACCTGAAAGAGAGCGCCAA
Phenotype
MIM: 602462 MIM: 604831
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CRMP1 PubMed Links

Gene Details

Gene
CRMP1
Gene Name
collapsin response mediator protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001014809.2 1986 Missense Mutation ATA,CTA I660L NP_001014809.1
NM_001288661.1 1986 Missense Mutation ATA,CTA I544L NP_001275590.1
NM_001288662.1 1986 Missense Mutation ATA,CTA I540L NP_001275591.1
NM_001313.4 1986 Missense Mutation ATA,CTA I546L NP_001304.1
Gene
EVC
Gene Name
EvC ciliary complex subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001306090.1 1986 Intron NP_001293019.1
NM_001306092.1 1986 Intron NP_001293021.1
NM_153717.2 1986 Intron NP_714928.1
XM_006713865.3 1986 Intron XP_006713928.1
XM_006713866.3 1986 Intron XP_006713929.1
XM_011513419.2 1986 Intron XP_011511721.1
XM_017007883.1 1986 Intron XP_016863372.1

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