Product Details

SNP ID

rs147753084

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:113424234 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCTCACCTCCATGAAACATGGCC[C/T]GGTGACACAGCTCAGTCCAGCTGTT

Phenotype

MIM: 610620

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADPRHL1 PubMed Links

Gene Details

Gene

ADPRHL1

Gene Name

ADP-ribosylhydrolase like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138430.4	977	Missense Mutation	CAG,CGG	Q297R	NP_612439.2
NM_199162.2	977	Missense Mutation	CAG,CGG	Q215R	NP_954631.1

Gene

LOC101928841

Gene Name

collagen alpha-1(II) chain-like

There are no transcripts associated with this gene.

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