Product Details

SNP ID

rs60321184

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:59634531 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGGAAAAATTCTTTGAGTCTCCT[G/T]GTAGTTTACCAAAGCTAATAATAGT

Phenotype

MIM: 118955

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CLTC PubMed Links

Gene Details

Gene

CLTC

Gene Name

clathrin heavy chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288653.1		Intron			NP_001275582.1
NM_004859.3		Intron			NP_004850.1
XM_005257012.3		Intron			XP_005257069.1

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