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SNP ID: rs11547273
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:59697939 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCAACAGCCAAGCCGAGTGTACTGG[T/G]ATGAGCCAAATATTCCATAACCAAG
Phenotype: MIM: 118955 MIM: 608625 MIM: 611753
Polymorphism: T/G, 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	122	Intron			NP_001275582.1
NM_004859.3	122	Intron			NP_004850.1
XM_005257012.3	122	Intron			XP_005257069.1

Gene: PTRH2
Gene Name: peptidyl-tRNA hydrolase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001015509.2	122	Missense Mutation	ACC,CCC	T15P	NP_001015509.1
NM_016077.4	122	Missense Mutation	ACC,CCC	T14P	NP_057161.1
XM_011524887.1	122	Missense Mutation	ACC,CCC	T14P	XP_011523189.1

Gene: VMP1
Gene Name: vacuole membrane protein 1

There are no transcripts associated with this gene.

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