Product Details

SNP ID

rs144589078

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:55175984 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATTTATCATAAGACTTTCTACTG[C/T]ATCTGTGGGGAAAAAATACAATATT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CLHC1 PubMed Links

Gene Details

Gene

CLHC1

Gene Name

clathrin heavy chain linker domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135598.1	4976	Missense Mutation			NP_001129070.1
NM_152385.2	4976	Missense Mutation			NP_689598.2
XM_005264136.2	4976	Missense Mutation			XP_005264193.1
XM_006711937.3	4976	Missense Mutation			XP_006712000.2
XM_006711938.3	4976	Missense Mutation			XP_006712001.1
XM_006711939.3	4976	Missense Mutation			XP_006712002.1
XM_011532519.2	4976	Missense Mutation			XP_011530821.1
XM_011532520.2	4976	Missense Mutation			XP_011530822.1
XM_011532521.2	4976	Missense Mutation			XP_011530823.1
XM_011532522.2	4976	Missense Mutation			XP_011530824.1
XM_011532523.2	4976	Missense Mutation			XP_011530825.1
XM_011532524.1	4976	Missense Mutation			XP_011530826.1
XM_011532525.2	4976	Missense Mutation			XP_011530827.1
XM_011532527.2	4976	Missense Mutation			XP_011530829.1
XM_011532528.1	4976	Missense Mutation			XP_011530830.1
XM_011532529.2	4976	Missense Mutation			XP_011530831.1
XM_011532530.1	4976	Missense Mutation			XP_011530832.1
XM_011532534.1	4976	Missense Mutation			XP_011530836.1
XM_011532535.2	4976	Missense Mutation			XP_011530837.1
XM_017003333.1	4976	Missense Mutation			XP_016858822.1
XM_017003334.1	4976	Missense Mutation			XP_016858823.1
XM_017003335.1	4976	Missense Mutation			XP_016858824.1
XM_017003336.1	4976	Missense Mutation			XP_016858825.1
XM_017003337.1	4976	Missense Mutation			XP_016858826.1
XM_017003338.1	4976	Missense Mutation			XP_016858827.1
XM_017003339.1	4976	Missense Mutation			XP_016858828.1
XM_017003340.1	4976	Missense Mutation			XP_016858829.1
XM_017003341.1	4976	Missense Mutation			XP_016858830.1
XM_017003342.1	4976	Missense Mutation			XP_016858831.1
XM_017003343.1	4976	Missense Mutation			XP_016858832.1
XM_017003344.1	4976	Missense Mutation			XP_016858833.1
XM_017003345.1	4976	Missense Mutation			XP_016858834.1
XM_017003346.1	4976	Missense Mutation			XP_016858835.1
XM_017003347.1	4976	Missense Mutation			XP_016858836.1
XM_017003348.1	4976	Intron			XP_016858837.1
XM_017003349.1	4976	Missense Mutation			XP_016858838.1
XM_017003350.1	4976	Missense Mutation			XP_016858839.1

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