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SNP ID: rs2708381
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:11061546 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: TTTGTTTTCCAGACTCTCAAAACTC[C/T]AAACTGACATGATTATGGACAGAAA
Phenotype: MIM: 168730 MIM: 612774
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: PRH1 PubMed Links

Gene Details

Gene: PRH1
Gene Name: proline rich protein HaeIII subfamily 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291314.1	749	Intron			NP_001278243.1
NM_001291315.1	749	Intron			NP_001278244.1

Gene: PRH1-PRR4
Gene Name: PRH1-PRR4 readthrough

There are no transcripts associated with this gene.

Gene: PRH1-TAS2R14
Gene Name: PRH1-TAS2R14 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001316893.1	749	Intron			NP_001303822.1

Gene: TAS2R46
Gene Name: taste 2 receptor member 46

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_176887.2	749	Nonsense Mutation	TAG,TGG	*250W	NP_795368.2

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