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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

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rs779160321

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:102917169 (GRCh38.p14) Help

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Alleles
C>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/250352, GnomAD_exome)
A=0.000008 (1/119888, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PAH : 5 Prime UTR Variant
Publications
0 citations
Genomic View
See rs on genome
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Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 250352 C=0.999996 A=0.000004
gnomAD - Exomes European Sub 134634 C=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 48844 C=1.00000 A=0.00000
gnomAD - Exomes American Sub 34524 C=1.00000 A=0.00000
gnomAD - Exomes African Sub 16168 C=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10062 C=0.99990 A=0.00010
gnomAD - Exomes Other Sub 6120 C=1.0000 A=0.0000
ExAC Global Study-wide 119888 C=0.999992 A=0.000008
ExAC Europe Sub 72390 C=0.99999 A=0.00001
ExAC Asian Sub 24870 C=1.00000 A=0.00000
ExAC American Sub 11456 C=1.00000 A=0.00000
ExAC African Sub 10280 C=1.00000 A=0.00000
ExAC Other Sub 892 C=1.000 A=0.000
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Genomic Placements
Sequence name Change
GRCh38.p14 chr 12 NC_000012.12:g.102917169C>A
GRCh37.p13 chr 12 NC_000012.11:g.103310947C>A
PAH RefSeqGene NG_008690.2:g.46242G>T
Gene: PAH, phenylalanine hydroxylase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PAH transcript variant 1 NM_000277.3:c.-39= N/A 5 Prime UTR Variant
PAH transcript variant 2 NM_001354304.2:c.-39= N/A 5 Prime UTR Variant
PAH transcript variant X1 XM_017019370.2:c.-39= N/A 5 Prime UTR Variant
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Not Reported in ClinVar
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Placement C= A
GRCh38.p14 chr 12 NC_000012.12:g.102917169= NC_000012.12:g.102917169C>A
GRCh37.p13 chr 12 NC_000012.11:g.103310947= NC_000012.11:g.103310947C>A
PAH RefSeqGene NG_008690.2:g.46242= NG_008690.2:g.46242G>T
PAH transcript variant 1 NM_000277.3:c.-39= NM_000277.3:c.-39G>T
PAH transcript variant 1 NM_000277.2:c.-39= NM_000277.2:c.-39G>T
PAH transcript NM_000277.1:c.-39= NM_000277.1:c.-39G>T
PAH transcript variant 2 NM_001354304.2:c.-39= NM_001354304.2:c.-39G>T
PAH transcript variant 2 NM_001354304.1:c.-39= NM_001354304.1:c.-39G>T
PAH transcript variant X1 XM_017019370.2:c.-39= XM_017019370.2:c.-39G>T
PAH transcript variant X1 XM_017019370.1:c.-39= XM_017019370.1:c.-39G>T
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2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1691072861 Apr 01, 2015 (144)
2 GNOMAD ss2740077595 Nov 08, 2017 (151)
3 ExAC NC_000012.11 - 103310947 Oct 12, 2018 (152)
4 gnomAD - Exomes NC_000012.11 - 103310947 Jul 13, 2019 (153)
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Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1383932, 9314175, ss1691072861, ss2740077595 NC_000012.11:103310946:C:A NC_000012.12:102917168:C:A (self)
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No publications for rs779160321

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Genome context:
Select flank length:

Genomic regions, transcripts, and products
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Software version is: 2.0.1.post761+d5e8e07