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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs150184334

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:237546612 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000012 (3/251482, GnomAD_exome)
T=0.000016 (2/121362, ExAC)
A=0.00000 (0/14050, ALFA) (+ 2 more)
T=0.00000 (0/14050, ALFA)
T=0.00008 (1/13006, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MLPH : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 30412 C=0.99993 A=0.00000, T=0.00007
European Sub 19780 C=1.00000 A=0.00000, T=0.00000
African Sub 7736 C=0.9997 A=0.0000, T=0.0003
African Others Sub 298 C=1.000 A=0.000, T=0.000
African American Sub 7438 C=0.9997 A=0.0000, T=0.0003
Asian Sub 112 C=1.000 A=0.000, T=0.000
East Asian Sub 86 C=1.00 A=0.00, T=0.00
Other Asian Sub 26 C=1.00 A=0.00, T=0.00
Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
South Asian Sub 98 C=1.00 A=0.00, T=0.00
Other Sub 1930 C=1.0000 A=0.0000, T=0.0000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 251482 C=0.999988 T=0.000012
gnomAD - Exomes European Sub 135410 C=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 49010 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34590 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16254 C=0.99982 T=0.00018
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6138 C=1.0000 T=0.0000
ExAC Global Study-wide 121362 C=0.999984 T=0.000016
ExAC Europe Sub 73340 C=1.00000 T=0.00000
ExAC Asian Sub 25166 C=1.00000 T=0.00000
ExAC American Sub 11570 C=1.00000 T=0.00000
ExAC African Sub 10380 C=0.99981 T=0.00019
ExAC Other Sub 906 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 14050 C=1.00000 A=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, T=0.00
GO Exome Sequencing Project Global Study-wide 13006 C=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8600 C=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 4406 C=0.9998 T=0.0002
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 2 NC_000002.12:g.237546612C>A
GRCh38.p14 chr 2 NC_000002.12:g.237546612C>T
GRCh37.p13 chr 2 NC_000002.11:g.238455255C>A
GRCh37.p13 chr 2 NC_000002.11:g.238455255C>T
MLPH RefSeqGene (LRG_83) NG_007286.1:g.64326C>A
MLPH RefSeqGene (LRG_83) NG_007286.1:g.64326C>T
Gene: MLPH, melanophilin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MLPH transcript variant 1 NM_024101.7:c.1546C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform 1 NP_077006.1:p.Leu516Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant 1 NM_024101.7:c.1546C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform 1 NP_077006.1:p.Leu516Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant 4 NM_001281474.2:c.1117C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform 4 NP_001268403.1:p.Leu373Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant 4 NM_001281474.2:c.1117C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform 4 NP_001268403.1:p.Leu373Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant 3 NM_001281473.2:c.1186C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform 3 NP_001268402.1:p.Leu396Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant 3 NM_001281473.2:c.1186C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform 3 NP_001268402.1:p.Leu396Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant 2 NM_001042467.3:c.1462C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform 2 NP_001035932.1:p.Leu488Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant 2 NM_001042467.3:c.1462C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform 2 NP_001035932.1:p.Leu488Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant 5 NR_104019.2:n.1946C>A N/A Non Coding Transcript Variant
MLPH transcript variant 5 NR_104019.2:n.1946C>T N/A Non Coding Transcript Variant
MLPH transcript variant X7 XM_017004894.2:c.*79= N/A 3 Prime UTR Variant
MLPH transcript variant X4 XM_047445807.1:c.*79= N/A 3 Prime UTR Variant
MLPH transcript variant X11 XM_047445810.1:c.*79= N/A 3 Prime UTR Variant
MLPH transcript variant X1 XM_017004893.2:c.1546C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform X1 XP_016860382.1:p.Leu516Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant X1 XM_017004893.2:c.1546C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform X1 XP_016860382.1:p.Leu516Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant X2 XM_047445806.1:c.1462C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform X2 XP_047301762.1:p.Leu488Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant X2 XM_047445806.1:c.1462C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform X2 XP_047301762.1:p.Leu488Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant X3 XM_006712737.2:c.1426C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform X3 XP_006712800.1:p.Leu476Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant X3 XM_006712737.2:c.1426C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform X3 XP_006712800.1:p.Leu476Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant X5 XM_006712739.2:c.1390C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform X5 XP_006712802.1:p.Leu464Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant X5 XM_006712739.2:c.1390C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform X5 XP_006712802.1:p.Leu464Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant X6 XM_006712740.2:c.1342C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform X6 XP_006712803.1:p.Leu448Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant X6 XM_006712740.2:c.1342C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform X6 XP_006712803.1:p.Leu448Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant X8 XM_047445808.1:c.1306C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform X8 XP_047301764.1:p.Leu436Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant X8 XM_047445808.1:c.1306C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform X8 XP_047301764.1:p.Leu436Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant X9 XM_047445809.1:c.1270C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform X9 XP_047301765.1:p.Leu424Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant X9 XM_047445809.1:c.1270C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform X9 XP_047301765.1:p.Leu424Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant X10 XM_011511812.2:c.1111C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform X10 XP_011510114.1:p.Leu371Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant X10 XM_011511812.2:c.1111C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform X10 XP_011510114.1:p.Leu371Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant X12 XM_047445811.1:c.1027C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform X12 XP_047301767.1:p.Leu343Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant X12 XM_047445811.1:c.1027C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform X12 XP_047301767.1:p.Leu343Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant X13 XM_047445812.1:c.991C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform X13 XP_047301768.1:p.Leu331Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant X13 XM_047445812.1:c.991C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform X13 XP_047301768.1:p.Leu331Phe L (Leu) > F (Phe) Missense Variant
MLPH transcript variant X14 XM_047445813.1:c.907C>A L [CTC] > I [ATC] Coding Sequence Variant
melanophilin isoform X14 XP_047301769.1:p.Leu303Ile L (Leu) > I (Ile) Missense Variant
MLPH transcript variant X14 XM_047445813.1:c.907C>T L [CTC] > F [TTC] Coding Sequence Variant
melanophilin isoform X14 XP_047301769.1:p.Leu303Phe L (Leu) > F (Phe) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A T
GRCh38.p14 chr 2 NC_000002.12:g.237546612= NC_000002.12:g.237546612C>A NC_000002.12:g.237546612C>T
GRCh37.p13 chr 2 NC_000002.11:g.238455255= NC_000002.11:g.238455255C>A NC_000002.11:g.238455255C>T
MLPH RefSeqGene (LRG_83) NG_007286.1:g.64326= NG_007286.1:g.64326C>A NG_007286.1:g.64326C>T
MLPH transcript variant 1 NM_024101.7:c.1546= NM_024101.7:c.1546C>A NM_024101.7:c.1546C>T
MLPH transcript variant 1 NM_024101.6:c.1546= NM_024101.6:c.1546C>A NM_024101.6:c.1546C>T
MLPH transcript variant 2 NM_001042467.3:c.1462= NM_001042467.3:c.1462C>A NM_001042467.3:c.1462C>T
MLPH transcript variant 2 NM_001042467.2:c.1462= NM_001042467.2:c.1462C>A NM_001042467.2:c.1462C>T
MLPH transcript variant 5 NR_104019.2:n.1946= NR_104019.2:n.1946C>A NR_104019.2:n.1946C>T
MLPH transcript variant 5 NR_104019.1:n.1978= NR_104019.1:n.1978C>A NR_104019.1:n.1978C>T
MLPH transcript variant 4 NM_001281474.2:c.1117= NM_001281474.2:c.1117C>A NM_001281474.2:c.1117C>T
MLPH transcript variant 4 NM_001281474.1:c.1117= NM_001281474.1:c.1117C>A NM_001281474.1:c.1117C>T
MLPH transcript variant 3 NM_001281473.2:c.1186= NM_001281473.2:c.1186C>A NM_001281473.2:c.1186C>T
MLPH transcript variant 3 NM_001281473.1:c.1186= NM_001281473.1:c.1186C>A NM_001281473.1:c.1186C>T
MLPH transcript variant X10 XM_011511812.2:c.1111= XM_011511812.2:c.1111C>A XM_011511812.2:c.1111C>T
MLPH transcript variant X6 XM_011511812.1:c.1111= XM_011511812.1:c.1111C>A XM_011511812.1:c.1111C>T
MLPH transcript variant X1 XM_017004893.2:c.1546= XM_017004893.2:c.1546C>A XM_017004893.2:c.1546C>T
MLPH transcript variant X1 XM_017004893.1:c.1546= XM_017004893.1:c.1546C>A XM_017004893.1:c.1546C>T
MLPH transcript variant X3 XM_006712737.2:c.1426= XM_006712737.2:c.1426C>A XM_006712737.2:c.1426C>T
MLPH transcript variant X2 XM_006712737.1:c.1426= XM_006712737.1:c.1426C>A XM_006712737.1:c.1426C>T
MLPH transcript variant X5 XM_006712739.2:c.1390= XM_006712739.2:c.1390C>A XM_006712739.2:c.1390C>T
MLPH transcript variant X3 XM_006712739.1:c.1390= XM_006712739.1:c.1390C>A XM_006712739.1:c.1390C>T
MLPH transcript variant X6 XM_006712740.2:c.1342= XM_006712740.2:c.1342C>A XM_006712740.2:c.1342C>T
MLPH transcript variant X4 XM_006712740.1:c.1342= XM_006712740.1:c.1342C>A XM_006712740.1:c.1342C>T
MLPH transcript variant X7 XM_017004894.2:c.*79= XM_017004894.2:c.*79C>A XM_017004894.2:c.*79C>T
MLPH transcript variant X5 XM_017004894.1:c.*79= XM_017004894.1:c.*79C>A XM_017004894.1:c.*79C>T
MLPH transcript variant X12 XM_047445811.1:c.1027= XM_047445811.1:c.1027C>A XM_047445811.1:c.1027C>T
MLPH transcript variant X13 XM_047445812.1:c.991= XM_047445812.1:c.991C>A XM_047445812.1:c.991C>T
MLPH transcript variant X14 XM_047445813.1:c.907= XM_047445813.1:c.907C>A XM_047445813.1:c.907C>T
MLPH transcript variant X2 XM_047445806.1:c.1462= XM_047445806.1:c.1462C>A XM_047445806.1:c.1462C>T
MLPH transcript variant X8 XM_047445808.1:c.1306= XM_047445808.1:c.1306C>A XM_047445808.1:c.1306C>T
MLPH transcript variant X9 XM_047445809.1:c.1270= XM_047445809.1:c.1270C>A XM_047445809.1:c.1270C>T
MLPH transcript variant X4 XM_047445807.1:c.*79= XM_047445807.1:c.*79C>A XM_047445807.1:c.*79C>T
MLPH transcript variant X11 XM_047445810.1:c.*79= XM_047445810.1:c.*79C>A XM_047445810.1:c.*79C>T
melanophilin isoform 1 NP_077006.1:p.Leu516= NP_077006.1:p.Leu516Ile NP_077006.1:p.Leu516Phe
melanophilin isoform 2 NP_001035932.1:p.Leu488= NP_001035932.1:p.Leu488Ile NP_001035932.1:p.Leu488Phe
melanophilin isoform 4 NP_001268403.1:p.Leu373= NP_001268403.1:p.Leu373Ile NP_001268403.1:p.Leu373Phe
melanophilin isoform 3 NP_001268402.1:p.Leu396= NP_001268402.1:p.Leu396Ile NP_001268402.1:p.Leu396Phe
melanophilin isoform X10 XP_011510114.1:p.Leu371= XP_011510114.1:p.Leu371Ile XP_011510114.1:p.Leu371Phe
melanophilin isoform X1 XP_016860382.1:p.Leu516= XP_016860382.1:p.Leu516Ile XP_016860382.1:p.Leu516Phe
melanophilin isoform X3 XP_006712800.1:p.Leu476= XP_006712800.1:p.Leu476Ile XP_006712800.1:p.Leu476Phe
melanophilin isoform X5 XP_006712802.1:p.Leu464= XP_006712802.1:p.Leu464Ile XP_006712802.1:p.Leu464Phe
melanophilin isoform X6 XP_006712803.1:p.Leu448= XP_006712803.1:p.Leu448Ile XP_006712803.1:p.Leu448Phe
melanophilin isoform X12 XP_047301767.1:p.Leu343= XP_047301767.1:p.Leu343Ile XP_047301767.1:p.Leu343Phe
melanophilin isoform X13 XP_047301768.1:p.Leu331= XP_047301768.1:p.Leu331Ile XP_047301768.1:p.Leu331Phe
melanophilin isoform X14 XP_047301769.1:p.Leu303= XP_047301769.1:p.Leu303Ile XP_047301769.1:p.Leu303Phe
melanophilin isoform X2 XP_047301762.1:p.Leu488= XP_047301762.1:p.Leu488Ile XP_047301762.1:p.Leu488Phe
melanophilin isoform X8 XP_047301764.1:p.Leu436= XP_047301764.1:p.Leu436Ile XP_047301764.1:p.Leu436Phe
melanophilin isoform X9 XP_047301765.1:p.Leu424= XP_047301765.1:p.Leu424Ile XP_047301765.1:p.Leu424Phe
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

10 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342107151 May 09, 2011 (134)
2 CLINSEQ_SNP ss491803224 May 04, 2012 (137)
3 EVA_EXAC ss1686809979 Apr 01, 2015 (144)
4 HUMAN_LONGEVITY ss2240408008 Dec 20, 2016 (150)
5 GNOMAD ss2733448270 Nov 08, 2017 (151)
6 EVA ss3823871181 Apr 25, 2020 (154)
7 GNOMAD ss4063677332 Apr 27, 2021 (155)
8 GNOMAD ss4063677333 Apr 27, 2021 (155)
9 TOPMED ss4549811297 Apr 27, 2021 (155)
10 TOPMED ss4549811298 Apr 27, 2021 (155)
11 ExAC NC_000002.11 - 238455255 Oct 11, 2018 (152)
12 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 95287529 (NC_000002.12:237546611:C:A 1/140256)
Row 95287530 (NC_000002.12:237546611:C:T 5/140256)

- Apr 27, 2021 (155)
13 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 95287529 (NC_000002.12:237546611:C:A 1/140256)
Row 95287530 (NC_000002.12:237546611:C:T 5/140256)

- Apr 27, 2021 (155)
14 gnomAD - Exomes NC_000002.11 - 238455255 Jul 13, 2019 (153)
15 GO Exome Sequencing Project NC_000002.11 - 238455255 Oct 11, 2018 (152)
16 TopMed

Submission ignored due to conflicting rows:
Row 353634176 (NC_000002.12:237546611:C:A 1/264690)
Row 353634177 (NC_000002.12:237546611:C:T 14/264690)

- Apr 27, 2021 (155)
17 TopMed

Submission ignored due to conflicting rows:
Row 353634176 (NC_000002.12:237546611:C:A 1/264690)
Row 353634177 (NC_000002.12:237546611:C:T 14/264690)

- Apr 27, 2021 (155)
18 ALFA NC_000002.12 - 237546612 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491803224 NC_000002.10:238119993:C:A NC_000002.12:237546611:C:A (self)
5464798952, ss4063677332, ss4549811297 NC_000002.12:237546611:C:A NC_000002.12:237546611:C:A (self)
6720078, 2518062, 329577, ss342107151, ss1686809979, ss2733448270, ss3823871181 NC_000002.11:238455254:C:T NC_000002.12:237546611:C:T (self)
5464798952, ss2240408008, ss4063677333, ss4549811298 NC_000002.12:237546611:C:T NC_000002.12:237546611:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs150184334

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07