Product Details

SNP ID

rs16876647

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:47860612 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCACTACTGCCCATTCTTCACAATG[C/T]CTATCTTCCTTTATGATTTTTTTTC

Phenotype

MIM: 616908

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

PTCHD4 PubMed Links

Additional Information

For this assay, SNP(s) [rs115875453] 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

PTCHD4

Gene Name

patched domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013732.3	21276	Intron			NP_001013754.3
NM_207499.2	21276	Intron			NP_997382.2
XM_011514639.2	21276	UTR 3			XP_011512941.1
XM_017010891.1	21276	UTR 3			XP_016866380.1
XM_017010892.1	21276	UTR 3			XP_016866381.1
XM_017010893.1	21276	UTR 3			XP_016866382.1
XM_017010894.1	21276	UTR 3			XP_016866383.1
XM_017010895.1	21276	UTR 3			XP_016866384.1
XM_017010896.1	21276	Intron			XP_016866385.1

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