Product Details

SNP ID

rs117043883

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:59700492 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGGCATAGATGACAGCCCTGGAA[A/G]TACTTATAAATTTCCTTTATGTTCT

Phenotype

MIM: 118955 MIM: 608625 MIM: 611753

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CLTC PubMed Links

Gene Details

Gene

CLTC

Gene Name

clathrin heavy chain

There are no transcripts associated with this gene.

Gene

PTRH2

Gene Name

peptidyl-tRNA hydrolase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001015509.2		Intron			NP_001015509.1
NM_016077.4		Intron			NP_057161.1
XM_011524887.1		Intron			XP_011523189.1

Gene

VMP1

Gene Name

vacuole membrane protein 1

There are no transcripts associated with this gene.

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