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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.

rs1488492161

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:153295554 (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
G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
C=0.000007 (1/140152, GnomAD)
C=0.00000 (0/14050, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TRIM2 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 G=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 G=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 G=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 496 G=1.000 C=0.000 1.0 0.0 0.0 N/A


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
TopMed Global Study-wide 264690 G=0.999996 C=0.000004
gnomAD - Genomes Global Study-wide 140152 G=0.999993 C=0.000007
gnomAD - Genomes European Sub 75906 G=0.99999 C=0.00001
gnomAD - Genomes African Sub 42002 G=1.00000 C=0.00000
gnomAD - Genomes American Sub 13642 G=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3130 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2148 G=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 14050 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 C=0.00
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 4 NC_000004.12:g.153295554G>C
GRCh37.p13 chr 4 NC_000004.11:g.154216706G>C
TRIM2 RefSeqGene NG_041788.1:g.147437G>C
Gene: TRIM2, tripartite motif containing 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TRIM2 transcript variant 3 NM_001302692.2:c. N/A Genic Downstream Transcript Variant
TRIM2 transcript variant 4 NM_001302693.2:c. N/A Genic Downstream Transcript Variant
TRIM2 transcript variant 5 NM_001302694.2:c. N/A Genic Downstream Transcript Variant
TRIM2 transcript variant 1 NM_015271.5:c.1028G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 1 NP_056086.2:p.Gly343Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 9 NM_001351057.2:c.572G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 9 NP_001337986.1:p.Gly191Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 8 NM_001351056.2:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 8 NP_001337985.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 2 NM_001130067.2:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 2 NP_001123539.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 7 NM_001351055.2:c.998G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 7 NP_001337984.1:p.Gly333Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 6 NM_001351054.2:c.1001G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 6 NP_001337983.1:p.Gly334Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 13 NM_001375491.1:c.968G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 13 NP_001362420.1:p.Gly323Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 18 NM_001375516.1:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 2 NP_001362445.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 10 NM_001375488.1:c.1121G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 10 NP_001362417.1:p.Gly374Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 15 NM_001375513.1:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 2 NP_001362442.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 22 NM_001375522.1:c.689G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 16 NP_001362451.1:p.Gly230Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 24 NM_001375525.1:c.689G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 16 NP_001362454.1:p.Gly230Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 14 NM_001375512.1:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 2 NP_001362441.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 17 NM_001375515.1:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 2 NP_001362444.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 21 NM_001375520.1:c.692G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 15 NP_001362449.1:p.Gly231Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 11 NM_001375489.1:c.1118G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 11 NP_001362418.1:p.Gly373Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 23 NM_001375523.1:c.689G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 16 NP_001362452.1:p.Gly230Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 12 NM_001375490.1:c.971G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 12 NP_001362419.1:p.Gly324Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 20 NM_001375519.1:c.695G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 14 NP_001362448.1:p.Gly232Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 16 NM_001375514.1:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 2 NP_001362443.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant 19 NM_001375517.1:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform 2 NP_001362446.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant X1 XM_006714157.2:c.1028G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform X1 XP_006714220.1:p.Gly343Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant X2 XM_006714158.2:c.1025G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform X2 XP_006714221.1:p.Gly342Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant X3 XM_017007943.2:c.1025G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform X3 XP_016863432.1:p.Gly342Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant X4 XM_047449949.1:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform X4 XP_047305905.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant X5 XM_011531796.4:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform X4 XP_011530098.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant X6 XM_047449951.1:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform X4 XP_047305907.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant X7 XM_047449952.1:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform X4 XP_047305908.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant X8 XM_047449953.1:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform X4 XP_047305909.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant X9 XM_017007948.3:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform X5 XP_016863437.1:p.Gly316Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant X10 XM_006714165.4:c.572G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform X6 XP_006714228.1:p.Gly191Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant X11 XM_017007953.3:c.572G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform X6 XP_016863442.1:p.Gly191Ala G (Gly) > A (Ala) Missense Variant
TRIM2 transcript variant X12 XM_047449954.1:c.947G>C G [GGG] > A [GCG] Coding Sequence Variant
tripartite motif-containing protein 2 isoform X4 XP_047305910.1:p.Gly316Ala G (Gly) > A (Ala) 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.

Allele: C (allele ID: 932216 )
ClinVar Accession Disease Names Clinical Significance
RCV001203568.4 Charcot-Marie-Tooth disease type 2R Uncertain-Significance
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 G= C
GRCh38.p14 chr 4 NC_000004.12:g.153295554= NC_000004.12:g.153295554G>C
GRCh37.p13 chr 4 NC_000004.11:g.154216706= NC_000004.11:g.154216706G>C
TRIM2 RefSeqGene NG_041788.1:g.147437= NG_041788.1:g.147437G>C
TRIM2 transcript variant 1 NM_015271.5:c.1028= NM_015271.5:c.1028G>C
TRIM2 transcript variant 1 NM_015271.4:c.1028= NM_015271.4:c.1028G>C
TRIM2 transcript variant 1 NM_015271.3:c.1028= NM_015271.3:c.1028G>C
TRIM2 transcript variant 8 NM_001351056.2:c.947= NM_001351056.2:c.947G>C
TRIM2 transcript variant 8 NM_001351056.1:c.947= NM_001351056.1:c.947G>C
TRIM2 transcript variant 6 NM_001351054.2:c.1001= NM_001351054.2:c.1001G>C
TRIM2 transcript variant 6 NM_001351054.1:c.1001= NM_001351054.1:c.1001G>C
TRIM2 transcript variant 7 NM_001351055.2:c.998= NM_001351055.2:c.998G>C
TRIM2 transcript variant 7 NM_001351055.1:c.998= NM_001351055.1:c.998G>C
TRIM2 transcript variant 9 NM_001351057.2:c.572= NM_001351057.2:c.572G>C
TRIM2 transcript variant 9 NM_001351057.1:c.572= NM_001351057.1:c.572G>C
TRIM2 transcript variant 2 NM_001130067.2:c.947= NM_001130067.2:c.947G>C
TRIM2 transcript variant 2 NM_001130067.1:c.947= NM_001130067.1:c.947G>C
TRIM2 transcript variant 14 NM_001375512.1:c.947= NM_001375512.1:c.947G>C
TRIM2 transcript variant 16 NM_001375514.1:c.947= NM_001375514.1:c.947G>C
TRIM2 transcript variant 15 NM_001375513.1:c.947= NM_001375513.1:c.947G>C
TRIM2 transcript variant 10 NM_001375488.1:c.1121= NM_001375488.1:c.1121G>C
TRIM2 transcript variant 11 NM_001375489.1:c.1118= NM_001375489.1:c.1118G>C
TRIM2 transcript variant 18 NM_001375516.1:c.947= NM_001375516.1:c.947G>C
TRIM2 transcript variant 17 NM_001375515.1:c.947= NM_001375515.1:c.947G>C
TRIM2 transcript variant 19 NM_001375517.1:c.947= NM_001375517.1:c.947G>C
TRIM2 transcript variant 23 NM_001375523.1:c.689= NM_001375523.1:c.689G>C
TRIM2 transcript variant 22 NM_001375522.1:c.689= NM_001375522.1:c.689G>C
TRIM2 transcript variant 12 NM_001375490.1:c.971= NM_001375490.1:c.971G>C
TRIM2 transcript variant 13 NM_001375491.1:c.968= NM_001375491.1:c.968G>C
TRIM2 transcript variant 24 NM_001375525.1:c.689= NM_001375525.1:c.689G>C
TRIM2 transcript variant 20 NM_001375519.1:c.695= NM_001375519.1:c.695G>C
TRIM2 transcript variant 21 NM_001375520.1:c.692= NM_001375520.1:c.692G>C
TRIM2 transcript variant X10 XM_006714165.4:c.572= XM_006714165.4:c.572G>C
TRIM2 transcript variant X18 XM_006714165.3:c.572= XM_006714165.3:c.572G>C
TRIM2 transcript variant X13 XM_006714165.2:c.572= XM_006714165.2:c.572G>C
TRIM2 transcript variant X9 XM_006714165.1:c.572= XM_006714165.1:c.572G>C
TRIM2 transcript variant X5 XM_011531796.4:c.947= XM_011531796.4:c.947G>C
TRIM2 transcript variant X17 XM_011531796.3:c.947= XM_011531796.3:c.947G>C
TRIM2 transcript variant X9 XM_011531796.2:c.947= XM_011531796.2:c.947G>C
TRIM2 transcript variant X9 XM_011531796.1:c.947= XM_011531796.1:c.947G>C
TRIM2 transcript variant X9 XM_017007948.3:c.947= XM_017007948.3:c.947G>C
TRIM2 transcript variant X12 XM_017007948.2:c.947= XM_017007948.2:c.947G>C
TRIM2 transcript variant X16 XM_017007948.1:c.947= XM_017007948.1:c.947G>C
TRIM2 transcript variant X11 XM_017007953.3:c.572= XM_017007953.3:c.572G>C
TRIM2 transcript variant X19 XM_017007953.2:c.572= XM_017007953.2:c.572G>C
TRIM2 transcript variant X22 XM_017007953.1:c.572= XM_017007953.1:c.572G>C
TRIM2 transcript variant X1 XM_006714157.2:c.1028= XM_006714157.2:c.1028G>C
TRIM2 transcript variant X1 XM_006714157.1:c.1028= XM_006714157.1:c.1028G>C
TRIM2 transcript variant X2 XM_006714158.2:c.1025= XM_006714158.2:c.1025G>C
TRIM2 transcript variant X2 XM_006714158.1:c.1025= XM_006714158.1:c.1025G>C
TRIM2 transcript variant X3 XM_017007943.2:c.1025= XM_017007943.2:c.1025G>C
TRIM2 transcript variant X3 XM_017007943.1:c.1025= XM_017007943.1:c.1025G>C
TRIM2 transcript variant X4 XM_047449949.1:c.947= XM_047449949.1:c.947G>C
TRIM2 transcript variant X7 XM_047449952.1:c.947= XM_047449952.1:c.947G>C
TRIM2 transcript variant X6 XM_047449951.1:c.947= XM_047449951.1:c.947G>C
TRIM2 transcript variant X8 XM_047449953.1:c.947= XM_047449953.1:c.947G>C
TRIM2 transcript variant X12 XM_047449954.1:c.947= XM_047449954.1:c.947G>C
tripartite motif-containing protein 2 isoform 1 NP_056086.2:p.Gly343= NP_056086.2:p.Gly343Ala
tripartite motif-containing protein 2 isoform 8 NP_001337985.1:p.Gly316= NP_001337985.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform 6 NP_001337983.1:p.Gly334= NP_001337983.1:p.Gly334Ala
tripartite motif-containing protein 2 isoform 7 NP_001337984.1:p.Gly333= NP_001337984.1:p.Gly333Ala
tripartite motif-containing protein 2 isoform 9 NP_001337986.1:p.Gly191= NP_001337986.1:p.Gly191Ala
tripartite motif-containing protein 2 isoform 2 NP_001123539.1:p.Gly316= NP_001123539.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform 2 NP_001362441.1:p.Gly316= NP_001362441.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform 2 NP_001362443.1:p.Gly316= NP_001362443.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform 2 NP_001362442.1:p.Gly316= NP_001362442.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform 10 NP_001362417.1:p.Gly374= NP_001362417.1:p.Gly374Ala
tripartite motif-containing protein 2 isoform 11 NP_001362418.1:p.Gly373= NP_001362418.1:p.Gly373Ala
tripartite motif-containing protein 2 isoform 2 NP_001362445.1:p.Gly316= NP_001362445.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform 2 NP_001362444.1:p.Gly316= NP_001362444.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform 2 NP_001362446.1:p.Gly316= NP_001362446.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform 16 NP_001362452.1:p.Gly230= NP_001362452.1:p.Gly230Ala
tripartite motif-containing protein 2 isoform 16 NP_001362451.1:p.Gly230= NP_001362451.1:p.Gly230Ala
tripartite motif-containing protein 2 isoform 12 NP_001362419.1:p.Gly324= NP_001362419.1:p.Gly324Ala
tripartite motif-containing protein 2 isoform 13 NP_001362420.1:p.Gly323= NP_001362420.1:p.Gly323Ala
tripartite motif-containing protein 2 isoform 16 NP_001362454.1:p.Gly230= NP_001362454.1:p.Gly230Ala
tripartite motif-containing protein 2 isoform 14 NP_001362448.1:p.Gly232= NP_001362448.1:p.Gly232Ala
tripartite motif-containing protein 2 isoform 15 NP_001362449.1:p.Gly231= NP_001362449.1:p.Gly231Ala
tripartite motif-containing protein 2 isoform X6 XP_006714228.1:p.Gly191= XP_006714228.1:p.Gly191Ala
tripartite motif-containing protein 2 isoform X4 XP_011530098.1:p.Gly316= XP_011530098.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform X5 XP_016863437.1:p.Gly316= XP_016863437.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform X6 XP_016863442.1:p.Gly191= XP_016863442.1:p.Gly191Ala
tripartite motif-containing protein 2 isoform X1 XP_006714220.1:p.Gly343= XP_006714220.1:p.Gly343Ala
tripartite motif-containing protein 2 isoform X2 XP_006714221.1:p.Gly342= XP_006714221.1:p.Gly342Ala
tripartite motif-containing protein 2 isoform X3 XP_016863432.1:p.Gly342= XP_016863432.1:p.Gly342Ala
tripartite motif-containing protein 2 isoform X4 XP_047305905.1:p.Gly316= XP_047305905.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform X4 XP_047305908.1:p.Gly316= XP_047305908.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform X4 XP_047305907.1:p.Gly316= XP_047305907.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform X4 XP_047305909.1:p.Gly316= XP_047305909.1:p.Gly316Ala
tripartite motif-containing protein 2 isoform X4 XP_047305910.1:p.Gly316= XP_047305910.1:p.Gly316Ala
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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#.

2 SubSNP, 3 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4123283339 Apr 26, 2021 (155)
2 TOPMED ss4637727469 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000004.12 - 153295554 Apr 26, 2021 (155)
4 TopMed NC_000004.12 - 153295554 Apr 26, 2021 (155)
5 ALFA NC_000004.12 - 153295554 Apr 26, 2021 (155)
6 ClinVar RCV001203568.4 Oct 17, 2022 (156)
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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
RCV001203568.4, 169769882, 475105025, 270190979, ss4123283339, ss4637727469 NC_000004.12:153295553:G:C NC_000004.12:153295553:G:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1488492161

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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.post820+afb47a3d