Product Details

SNP ID

rs199524996

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:59697905 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGCTCCAGCCCAGGCACATGCCA[C/T]AAGCAACTCCAACAGCCAAGCCGAG

Phenotype

MIM: 118955 MIM: 608625 MIM: 611753

Polymorphism

C/T, Transition 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	156	Intron			NP_001275582.1
NM_004859.3	156	Intron			NP_004850.1
XM_005257012.3	156	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	156	Missense Mutation	TAT,TGT	Y26C	NP_001015509.1
NM_016077.4	156	Missense Mutation	TAT,TGT	Y25C	NP_057161.1
XM_011524887.1	156	Missense Mutation	TAT,TGT	Y25C	XP_011523189.1

Gene

VMP1

Gene Name

vacuole membrane protein 1

There are no transcripts associated with this gene.

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