Product Details

SNP ID

rs76628300

Assay Type

Functionally Tested

NCBI dbSNP Submissions

17

Location

Chr.1:42747259 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCACCAGCTGCTCTCACCCGCTC[C/G]AGCTGCTCTCACCCGCTCGCTGTGT

Phenotype

MIM: 610036 MIM: 610339

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

CLDN19 PubMed Links

Additional Information

For this assay, SNP(s) [rs67014447] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CLDN19

Gene Name

claudin 19

There are no transcripts associated with this gene.

Gene

P3H1

Gene Name

prolyl 3-hydroxylase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146289.1	2181	Missense Mutation	CGA,GGA	R690G	NP_001139761.1
NM_001243246.1	2181	Missense Mutation	CGA,GGA	R690G	NP_001230175.1
NM_022356.3	2181	Intron			NP_071751.3
XM_005271110.2	2181	Intron			XP_005271167.1
XM_011541948.1	2181	Intron			XP_011540250.1
XM_017002051.1	2181	Intron			XP_016857540.1
XM_017002052.1	2181	Intron			XP_016857541.1

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