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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

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.

rs1477558069

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:103989385 (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=0.000014 (2/140232, GnomAD)
C=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RIMS2 : 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 10680 G=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 G=1.00 C=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 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 94 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 466 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 140232 G=0.999986 C=0.000014
gnomAD - Genomes European Sub 75944 G=0.99997 C=0.00003
gnomAD - Genomes African Sub 42036 G=1.00000 C=0.00000
gnomAD - Genomes American Sub 13652 G=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2148 G=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 10680 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2294 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 466 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 108 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 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 8 NC_000008.11:g.103989385G>C
GRCh37.p13 chr 8 NC_000008.10:g.105001613G>C
RIMS2 RefSeqGene NG_053027.1:g.494360G>C
Gene: RIMS2, regulating synaptic membrane exocytosis 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RIMS2 transcript variant 4 NM_001282882.2:c. N/A Genic Upstream Transcript Variant
RIMS2 transcript variant 9 NM_001348488.2:c.3092G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform i NP_001335417.1:p.Arg1031P…

NP_001335417.1:p.Arg1031Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 20 NM_001348499.2:c.2384G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform t NP_001335428.1:p.Arg795Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 29 NM_001348508.2:c.2384G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform cc NP_001335437.1:p.Arg795Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 23 NM_001348502.2:c.2384G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform w NP_001335431.1:p.Arg795Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 30 NM_001348509.2:c.2384G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform dd NP_001335438.1:p.Arg795Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 19 NM_001348498.2:c.2384G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform s NP_001335427.1:p.Arg795Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 27 NM_001348506.2:c.2384G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform aa NP_001335435.1:p.Arg795Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 21 NM_001348500.2:c.2384G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform u NP_001335429.1:p.Arg795Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 18 NM_001348497.2:c.3101G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform r NP_001335426.1:p.Arg1034P…

NP_001335426.1:p.Arg1034Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 14 NM_001348493.2:c.2960G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform n NP_001335422.1:p.Arg987Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 15 NM_001348494.2:c.3101G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform o NP_001335423.1:p.Arg1034P…

NP_001335423.1:p.Arg1034Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 16 NM_001348495.2:c.3002G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform p NP_001335424.1:p.Arg1001P…

NP_001335424.1:p.Arg1001Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 6 NM_001348485.2:c.2960G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform f NP_001335414.1:p.Arg987Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 7 NM_001348486.2:c.3113G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform g NP_001335415.1:p.Arg1038P…

NP_001335415.1:p.Arg1038Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 24 NM_001348503.2:c.2384G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform x NP_001335432.1:p.Arg795Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 28 NM_001348507.2:c.2432G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform bb NP_001335436.1:p.Arg811Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 11 NM_001348490.2:c.2972G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform k NP_001335419.1:p.Arg991Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 22 NM_001348501.2:c.2384G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform v NP_001335430.1:p.Arg795Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 10 NM_001348489.2:c.2960G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform j NP_001335418.1:p.Arg987Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 2 NM_014677.5:c.2384G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform b NP_055492.3:p.Arg795Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 8 NM_001348487.2:c.2972G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform h NP_001335416.1:p.Arg991Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 25 NM_001348504.2:c.2432G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform y NP_001335433.1:p.Arg811Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 17 NM_001348496.2:c.2972G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform q NP_001335425.1:p.Arg991Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 3 NM_001282881.2:c.2525G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform c NP_001269810.1:p.Arg842Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 12 NM_001348491.2:c.3221G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform l NP_001335420.1:p.Arg1074P…

NP_001335420.1:p.Arg1074Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 13 NM_001348492.2:c.2972G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform m NP_001335421.1:p.Arg991Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 26 NM_001348505.2:c.2525G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform z NP_001335434.1:p.Arg842Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 1 NM_001100117.3:c.3008G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform a NP_001093587.1:p.Arg1003P…

NP_001093587.1:p.Arg1003Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 33 NM_001395652.1:c.3020G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform ee NP_001382581.1:p.Arg1007P…

NP_001382581.1:p.Arg1007Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 34 NM_001395653.1:c.3092G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform ff NP_001382582.1:p.Arg1031P…

NP_001382582.1:p.Arg1031Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 35 NM_001395654.1:c.3092G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform gg NP_001382583.1:p.Arg1031P…

NP_001382583.1:p.Arg1031Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 5 NM_001348484.3:c.3233G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform e NP_001335413.1:p.Arg1078P…

NP_001335413.1:p.Arg1078Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant 32 NR_145711.2:n.2672G>C N/A Non Coding Transcript Variant
RIMS2 transcript variant 31 NR_145710.2:n.3574G>C N/A Non Coding Transcript Variant
RIMS2 transcript variant X31 XM_006716698.4:c. N/A Genic Upstream Transcript Variant
RIMS2 transcript variant X1 XM_011517395.4:c.3323G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X1 XP_011515697.1:p.Arg1108P…

XP_011515697.1:p.Arg1108Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X2 XM_017014006.3:c.3275G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X2 XP_016869495.1:p.Arg1092P…

XP_016869495.1:p.Arg1092Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X3 XM_047422468.1:c.3275G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X3 XP_047278424.1:p.Arg1092P…

XP_047278424.1:p.Arg1092Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X4 XM_047422469.1:c.3233G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X4 XP_047278425.1:p.Arg1078P…

XP_047278425.1:p.Arg1078Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X5 XM_017014008.3:c.3323G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X5 XP_016869497.1:p.Arg1108P…

XP_016869497.1:p.Arg1108Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X6 XM_047422470.1:c.3191G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X6 XP_047278426.1:p.Arg1064P…

XP_047278426.1:p.Arg1064Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X7 XM_047422471.1:c.3143G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X7 XP_047278427.1:p.Arg1048P…

XP_047278427.1:p.Arg1048Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X8 XM_047422472.1:c.3143G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X8 XP_047278428.1:p.Arg1048P…

XP_047278428.1:p.Arg1048Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X9 XM_047422473.1:c.3134G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X9 XP_047278429.1:p.Arg1045P…

XP_047278429.1:p.Arg1045Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X10 XM_017014009.3:c.3323G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X10 XP_016869498.1:p.Arg1108P…

XP_016869498.1:p.Arg1108Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X11 XM_047422474.1:c.3101G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X11 XP_047278430.1:p.Arg1034P…

XP_047278430.1:p.Arg1034Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X12 XM_017014010.3:c.3182G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X12 XP_016869499.1:p.Arg1061P…

XP_016869499.1:p.Arg1061Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X13 XM_017014011.3:c.3275G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X13 XP_016869500.1:p.Arg1092P…

XP_016869500.1:p.Arg1092Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X14 XM_047422475.1:c.3050G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X14 XP_047278431.1:p.Arg1017P…

XP_047278431.1:p.Arg1017Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X15 XM_047422476.1:c.3002G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X15 XP_047278432.1:p.Arg1001P…

XP_047278432.1:p.Arg1001Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X16 XM_017014012.3:c.3275G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X16 XP_016869501.1:p.Arg1092P…

XP_016869501.1:p.Arg1092Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X17 XM_047422477.1:c.3002G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X17 XP_047278433.1:p.Arg1001P…

XP_047278433.1:p.Arg1001Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X18 XM_047422478.1:c.3149G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X18 XP_047278434.1:p.Arg1050P…

XP_047278434.1:p.Arg1050Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X19 XM_047422479.1:c.3143G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X19 XP_047278435.1:p.Arg1048P…

XP_047278435.1:p.Arg1048Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X20 XM_017014014.2:c.2960G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X20 XP_016869503.1:p.Arg987Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X21 XM_017014015.3:c.3182G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X21 XP_016869504.1:p.Arg1061P…

XP_016869504.1:p.Arg1061Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X22 XM_017014016.3:c.3134G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X22 XP_016869505.1:p.Arg1045P…

XP_016869505.1:p.Arg1045Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X23 XM_005251106.4:c.3101G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X23 XP_005251163.1:p.Arg1034P…

XP_005251163.1:p.Arg1034Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X24 XM_047422480.1:c.3143G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X24 XP_047278436.1:p.Arg1048P…

XP_047278436.1:p.Arg1048Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X25 XM_005251107.4:c.3101G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X25 XP_005251164.1:p.Arg1034P…

XP_005251164.1:p.Arg1034Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X26 XM_047422481.1:c.3002G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X26 XP_047278437.1:p.Arg1001P…

XP_047278437.1:p.Arg1001Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X27 XM_047422482.1:c.2960G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X27 XP_047278438.1:p.Arg987Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X28 XM_017014022.2:c.2525G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X28 XP_016869511.1:p.Arg842Pro R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X29 XM_047422483.1:c.3101G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X29 XP_047278439.1:p.Arg1034P…

XP_047278439.1:p.Arg1034Pro

R (Arg) > P (Pro) Missense Variant
RIMS2 transcript variant X30 XM_017014036.2:c.2384G>C R [CGT] > P [CCT] Coding Sequence Variant
regulating synaptic membrane exocytosis protein 2 isoform X30 XP_016869525.1:p.Arg795Pro R (Arg) > P (Pro) 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 G= C
GRCh38.p14 chr 8 NC_000008.11:g.103989385= NC_000008.11:g.103989385G>C
GRCh37.p13 chr 8 NC_000008.10:g.105001613= NC_000008.10:g.105001613G>C
RIMS2 RefSeqGene NG_053027.1:g.494360= NG_053027.1:g.494360G>C
RIMS2 transcript variant 2 NM_014677.5:c.2384= NM_014677.5:c.2384G>C
RIMS2 transcript variant 2 NM_014677.4:c.2384= NM_014677.4:c.2384G>C
RIMS2 transcript variant 1 NM_001100117.3:c.3008= NM_001100117.3:c.3008G>C
RIMS2 transcript variant 1 NM_001100117.2:c.3008= NM_001100117.2:c.3008G>C
RIMS2 transcript variant 5 NM_001348484.3:c.3233= NM_001348484.3:c.3233G>C
RIMS2 transcript variant 5 NM_001348484.2:c.3233= NM_001348484.2:c.3233G>C
RIMS2 transcript variant 5 NM_001348484.1:c.3233= NM_001348484.1:c.3233G>C
RIMS2 transcript variant 10 NM_001348489.2:c.2960= NM_001348489.2:c.2960G>C
RIMS2 transcript variant 10 NM_001348489.1:c.2960= NM_001348489.1:c.2960G>C
RIMS2 transcript variant 11 NM_001348490.2:c.2972= NM_001348490.2:c.2972G>C
RIMS2 transcript variant 11 NM_001348490.1:c.2972= NM_001348490.1:c.2972G>C
RIMS2 transcript variant 31 NR_145710.2:n.3574= NR_145710.2:n.3574G>C
RIMS2 transcript variant 31 NR_145710.1:n.3436= NR_145710.1:n.3436G>C
RIMS2 transcript variant 12 NM_001348491.2:c.3221= NM_001348491.2:c.3221G>C
RIMS2 transcript variant 12 NM_001348491.1:c.3221= NM_001348491.1:c.3221G>C
RIMS2 transcript variant 7 NM_001348486.2:c.3113= NM_001348486.2:c.3113G>C
RIMS2 transcript variant 7 NM_001348486.1:c.3113= NM_001348486.1:c.3113G>C
RIMS2 transcript variant 15 NM_001348494.2:c.3101= NM_001348494.2:c.3101G>C
RIMS2 transcript variant 15 NM_001348494.1:c.3101= NM_001348494.1:c.3101G>C
RIMS2 transcript variant 9 NM_001348488.2:c.3092= NM_001348488.2:c.3092G>C
RIMS2 transcript variant 9 NM_001348488.1:c.3092= NM_001348488.1:c.3092G>C
RIMS2 transcript variant 30 NM_001348509.2:c.2384= NM_001348509.2:c.2384G>C
RIMS2 transcript variant 30 NM_001348509.1:c.2384= NM_001348509.1:c.2384G>C
RIMS2 transcript variant 8 NM_001348487.2:c.2972= NM_001348487.2:c.2972G>C
RIMS2 transcript variant 8 NM_001348487.1:c.2972= NM_001348487.1:c.2972G>C
RIMS2 transcript variant 16 NM_001348495.2:c.3002= NM_001348495.2:c.3002G>C
RIMS2 transcript variant 16 NM_001348495.1:c.3002= NM_001348495.1:c.3002G>C
RIMS2 transcript variant 13 NM_001348492.2:c.2972= NM_001348492.2:c.2972G>C
RIMS2 transcript variant 13 NM_001348492.1:c.2972= NM_001348492.1:c.2972G>C
RIMS2 transcript variant 17 NM_001348496.2:c.2972= NM_001348496.2:c.2972G>C
RIMS2 transcript variant 17 NM_001348496.1:c.2972= NM_001348496.1:c.2972G>C
RIMS2 transcript variant 14 NM_001348493.2:c.2960= NM_001348493.2:c.2960G>C
RIMS2 transcript variant 14 NM_001348493.1:c.2960= NM_001348493.1:c.2960G>C
RIMS2 transcript variant 18 NM_001348497.2:c.3101= NM_001348497.2:c.3101G>C
RIMS2 transcript variant 18 NM_001348497.1:c.3101= NM_001348497.1:c.3101G>C
RIMS2 transcript variant 24 NM_001348503.2:c.2384= NM_001348503.2:c.2384G>C
RIMS2 transcript variant 24 NM_001348503.1:c.2384= NM_001348503.1:c.2384G>C
RIMS2 transcript variant 19 NM_001348498.2:c.2384= NM_001348498.2:c.2384G>C
RIMS2 transcript variant 19 NM_001348498.1:c.2384= NM_001348498.1:c.2384G>C
RIMS2 transcript variant 22 NM_001348501.2:c.2384= NM_001348501.2:c.2384G>C
RIMS2 transcript variant 22 NM_001348501.1:c.2384= NM_001348501.1:c.2384G>C
RIMS2 transcript variant 6 NM_001348485.2:c.2960= NM_001348485.2:c.2960G>C
RIMS2 transcript variant 6 NM_001348485.1:c.2960= NM_001348485.1:c.2960G>C
RIMS2 transcript variant 26 NM_001348505.2:c.2525= NM_001348505.2:c.2525G>C
RIMS2 transcript variant 26 NM_001348505.1:c.2525= NM_001348505.1:c.2525G>C
RIMS2 transcript variant 3 NM_001282881.2:c.2525= NM_001282881.2:c.2525G>C
RIMS2 transcript variant 3 NM_001282881.1:c.2525= NM_001282881.1:c.2525G>C
RIMS2 transcript variant 20 NM_001348499.2:c.2384= NM_001348499.2:c.2384G>C
RIMS2 transcript variant 20 NM_001348499.1:c.2384= NM_001348499.1:c.2384G>C
RIMS2 transcript variant 28 NM_001348507.2:c.2432= NM_001348507.2:c.2432G>C
RIMS2 transcript variant 28 NM_001348507.1:c.2432= NM_001348507.1:c.2432G>C
RIMS2 transcript variant 29 NM_001348508.2:c.2384= NM_001348508.2:c.2384G>C
RIMS2 transcript variant 29 NM_001348508.1:c.2384= NM_001348508.1:c.2384G>C
RIMS2 transcript variant 27 NM_001348506.2:c.2384= NM_001348506.2:c.2384G>C
RIMS2 transcript variant 27 NM_001348506.1:c.2384= NM_001348506.1:c.2384G>C
RIMS2 transcript variant 32 NR_145711.2:n.2672= NR_145711.2:n.2672G>C
RIMS2 transcript variant 32 NR_145711.1:n.2704= NR_145711.1:n.2704G>C
RIMS2 transcript variant 25 NM_001348504.2:c.2432= NM_001348504.2:c.2432G>C
RIMS2 transcript variant 25 NM_001348504.1:c.2432= NM_001348504.1:c.2432G>C
RIMS2 transcript variant 21 NM_001348500.2:c.2384= NM_001348500.2:c.2384G>C
RIMS2 transcript variant 21 NM_001348500.1:c.2384= NM_001348500.1:c.2384G>C
RIMS2 transcript variant 23 NM_001348502.2:c.2384= NM_001348502.2:c.2384G>C
RIMS2 transcript variant 23 NM_001348502.1:c.2384= NM_001348502.1:c.2384G>C
RIMS2 transcript variant 35 NM_001395654.1:c.3092= NM_001395654.1:c.3092G>C
RIMS2 transcript variant 33 NM_001395652.1:c.3020= NM_001395652.1:c.3020G>C
RIMS2 transcript variant 34 NM_001395653.1:c.3092= NM_001395653.1:c.3092G>C
RIMS2 transcript variant X1 XM_011517395.4:c.3323= XM_011517395.4:c.3323G>C
RIMS2 transcript variant X1 XM_011517395.3:c.3323= XM_011517395.3:c.3323G>C
RIMS2 transcript variant X1 XM_011517395.2:c.3323= XM_011517395.2:c.3323G>C
RIMS2 transcript variant X7 XM_011517395.1:c.3323= XM_011517395.1:c.3323G>C
RIMS2 transcript variant X23 XM_005251106.4:c.3101= XM_005251106.4:c.3101G>C
RIMS2 transcript variant X17 XM_005251106.3:c.3101= XM_005251106.3:c.3101G>C
RIMS2 transcript variant X9 XM_005251106.2:c.3101= XM_005251106.2:c.3101G>C
RIMS2 transcript variant X1 XM_005251106.1:c.3101= XM_005251106.1:c.3101G>C
RIMS2 transcript variant X25 XM_005251107.4:c.3101= XM_005251107.4:c.3101G>C
RIMS2 transcript variant X19 XM_005251107.3:c.3101= XM_005251107.3:c.3101G>C
RIMS2 transcript variant X10 XM_005251107.2:c.3101= XM_005251107.2:c.3101G>C
RIMS2 transcript variant X2 XM_005251107.1:c.3101= XM_005251107.1:c.3101G>C
RIMS2 transcript variant X2 XM_017014006.3:c.3275= XM_017014006.3:c.3275G>C
RIMS2 transcript variant X2 XM_017014006.2:c.3275= XM_017014006.2:c.3275G>C
RIMS2 transcript variant X2 XM_017014006.1:c.3275= XM_017014006.1:c.3275G>C
RIMS2 transcript variant X5 XM_017014008.3:c.3323= XM_017014008.3:c.3323G>C
RIMS2 transcript variant X4 XM_017014008.2:c.3323= XM_017014008.2:c.3323G>C
RIMS2 transcript variant X4 XM_017014008.1:c.3323= XM_017014008.1:c.3323G>C
RIMS2 transcript variant X10 XM_017014009.3:c.3323= XM_017014009.3:c.3323G>C
RIMS2 transcript variant X8 XM_017014009.2:c.3323= XM_017014009.2:c.3323G>C
RIMS2 transcript variant X5 XM_017014009.1:c.3323= XM_017014009.1:c.3323G>C
RIMS2 transcript variant X12 XM_017014010.3:c.3182= XM_017014010.3:c.3182G>C
RIMS2 transcript variant X10 XM_017014010.2:c.3182= XM_017014010.2:c.3182G>C
RIMS2 transcript variant X6 XM_017014010.1:c.3182= XM_017014010.1:c.3182G>C
RIMS2 transcript variant X13 XM_017014011.3:c.3275= XM_017014011.3:c.3275G>C
RIMS2 transcript variant X11 XM_017014011.2:c.3275= XM_017014011.2:c.3275G>C
RIMS2 transcript variant X7 XM_017014011.1:c.3275= XM_017014011.1:c.3275G>C
RIMS2 transcript variant X16 XM_017014012.3:c.3275= XM_017014012.3:c.3275G>C
RIMS2 transcript variant X12 XM_017014012.2:c.3275= XM_017014012.2:c.3275G>C
RIMS2 transcript variant X8 XM_017014012.1:c.3275= XM_017014012.1:c.3275G>C
RIMS2 transcript variant X21 XM_017014015.3:c.3182= XM_017014015.3:c.3182G>C
RIMS2 transcript variant X15 XM_017014015.2:c.3182= XM_017014015.2:c.3182G>C
RIMS2 transcript variant X11 XM_017014015.1:c.3182= XM_017014015.1:c.3182G>C
RIMS2 transcript variant X22 XM_017014016.3:c.3134= XM_017014016.3:c.3134G>C
RIMS2 transcript variant X16 XM_017014016.2:c.3134= XM_017014016.2:c.3134G>C
RIMS2 transcript variant X12 XM_017014016.1:c.3134= XM_017014016.1:c.3134G>C
RIMS2 transcript variant X20 XM_017014014.2:c.2960= XM_017014014.2:c.2960G>C
RIMS2 transcript variant X13 XM_017014014.1:c.2960= XM_017014014.1:c.2960G>C
RIMS2 transcript variant X28 XM_017014022.2:c.2525= XM_017014022.2:c.2525G>C
RIMS2 transcript variant X22 XM_017014022.1:c.2525= XM_017014022.1:c.2525G>C
RIMS2 transcript variant X30 XM_017014036.2:c.2384= XM_017014036.2:c.2384G>C
RIMS2 transcript variant X30 XM_017014036.1:c.2384= XM_017014036.1:c.2384G>C
RIMS2 transcript variant X3 XM_047422468.1:c.3275= XM_047422468.1:c.3275G>C
RIMS2 transcript variant X4 XM_047422469.1:c.3233= XM_047422469.1:c.3233G>C
RIMS2 transcript variant X6 XM_047422470.1:c.3191= XM_047422470.1:c.3191G>C
RIMS2 transcript variant X7 XM_047422471.1:c.3143= XM_047422471.1:c.3143G>C
RIMS2 transcript variant X8 XM_047422472.1:c.3143= XM_047422472.1:c.3143G>C
RIMS2 transcript variant X9 XM_047422473.1:c.3134= XM_047422473.1:c.3134G>C
RIMS2 transcript variant X11 XM_047422474.1:c.3101= XM_047422474.1:c.3101G>C
RIMS2 transcript variant X14 XM_047422475.1:c.3050= XM_047422475.1:c.3050G>C
RIMS2 transcript variant X15 XM_047422476.1:c.3002= XM_047422476.1:c.3002G>C
RIMS2 transcript variant X17 XM_047422477.1:c.3002= XM_047422477.1:c.3002G>C
RIMS2 transcript variant X18 XM_047422478.1:c.3149= XM_047422478.1:c.3149G>C
RIMS2 transcript variant X19 XM_047422479.1:c.3143= XM_047422479.1:c.3143G>C
RIMS2 transcript variant X24 XM_047422480.1:c.3143= XM_047422480.1:c.3143G>C
RIMS2 transcript variant X26 XM_047422481.1:c.3002= XM_047422481.1:c.3002G>C
RIMS2 transcript variant X27 XM_047422482.1:c.2960= XM_047422482.1:c.2960G>C
RIMS2 transcript variant X29 XM_047422483.1:c.3101= XM_047422483.1:c.3101G>C
regulating synaptic membrane exocytosis protein 2 isoform b NP_055492.3:p.Arg795= NP_055492.3:p.Arg795Pro
regulating synaptic membrane exocytosis protein 2 isoform a NP_001093587.1:p.Arg1003= NP_001093587.1:p.Arg1003Pro
regulating synaptic membrane exocytosis protein 2 isoform e NP_001335413.1:p.Arg1078= NP_001335413.1:p.Arg1078Pro
regulating synaptic membrane exocytosis protein 2 isoform j NP_001335418.1:p.Arg987= NP_001335418.1:p.Arg987Pro
regulating synaptic membrane exocytosis protein 2 isoform k NP_001335419.1:p.Arg991= NP_001335419.1:p.Arg991Pro
regulating synaptic membrane exocytosis protein 2 isoform l NP_001335420.1:p.Arg1074= NP_001335420.1:p.Arg1074Pro
regulating synaptic membrane exocytosis protein 2 isoform g NP_001335415.1:p.Arg1038= NP_001335415.1:p.Arg1038Pro
regulating synaptic membrane exocytosis protein 2 isoform o NP_001335423.1:p.Arg1034= NP_001335423.1:p.Arg1034Pro
regulating synaptic membrane exocytosis protein 2 isoform i NP_001335417.1:p.Arg1031= NP_001335417.1:p.Arg1031Pro
regulating synaptic membrane exocytosis protein 2 isoform dd NP_001335438.1:p.Arg795= NP_001335438.1:p.Arg795Pro
regulating synaptic membrane exocytosis protein 2 isoform h NP_001335416.1:p.Arg991= NP_001335416.1:p.Arg991Pro
regulating synaptic membrane exocytosis protein 2 isoform p NP_001335424.1:p.Arg1001= NP_001335424.1:p.Arg1001Pro
regulating synaptic membrane exocytosis protein 2 isoform m NP_001335421.1:p.Arg991= NP_001335421.1:p.Arg991Pro
regulating synaptic membrane exocytosis protein 2 isoform q NP_001335425.1:p.Arg991= NP_001335425.1:p.Arg991Pro
regulating synaptic membrane exocytosis protein 2 isoform n NP_001335422.1:p.Arg987= NP_001335422.1:p.Arg987Pro
regulating synaptic membrane exocytosis protein 2 isoform r NP_001335426.1:p.Arg1034= NP_001335426.1:p.Arg1034Pro
regulating synaptic membrane exocytosis protein 2 isoform x NP_001335432.1:p.Arg795= NP_001335432.1:p.Arg795Pro
regulating synaptic membrane exocytosis protein 2 isoform s NP_001335427.1:p.Arg795= NP_001335427.1:p.Arg795Pro
regulating synaptic membrane exocytosis protein 2 isoform v NP_001335430.1:p.Arg795= NP_001335430.1:p.Arg795Pro
regulating synaptic membrane exocytosis protein 2 isoform f NP_001335414.1:p.Arg987= NP_001335414.1:p.Arg987Pro
regulating synaptic membrane exocytosis protein 2 isoform z NP_001335434.1:p.Arg842= NP_001335434.1:p.Arg842Pro
regulating synaptic membrane exocytosis protein 2 isoform c NP_001269810.1:p.Arg842= NP_001269810.1:p.Arg842Pro
regulating synaptic membrane exocytosis protein 2 isoform t NP_001335428.1:p.Arg795= NP_001335428.1:p.Arg795Pro
regulating synaptic membrane exocytosis protein 2 isoform bb NP_001335436.1:p.Arg811= NP_001335436.1:p.Arg811Pro
regulating synaptic membrane exocytosis protein 2 isoform cc NP_001335437.1:p.Arg795= NP_001335437.1:p.Arg795Pro
regulating synaptic membrane exocytosis protein 2 isoform aa NP_001335435.1:p.Arg795= NP_001335435.1:p.Arg795Pro
regulating synaptic membrane exocytosis protein 2 isoform y NP_001335433.1:p.Arg811= NP_001335433.1:p.Arg811Pro
regulating synaptic membrane exocytosis protein 2 isoform u NP_001335429.1:p.Arg795= NP_001335429.1:p.Arg795Pro
regulating synaptic membrane exocytosis protein 2 isoform w NP_001335431.1:p.Arg795= NP_001335431.1:p.Arg795Pro
regulating synaptic membrane exocytosis protein 2 isoform gg NP_001382583.1:p.Arg1031= NP_001382583.1:p.Arg1031Pro
regulating synaptic membrane exocytosis protein 2 isoform ee NP_001382581.1:p.Arg1007= NP_001382581.1:p.Arg1007Pro
regulating synaptic membrane exocytosis protein 2 isoform ff NP_001382582.1:p.Arg1031= NP_001382582.1:p.Arg1031Pro
regulating synaptic membrane exocytosis protein 2 isoform X1 XP_011515697.1:p.Arg1108= XP_011515697.1:p.Arg1108Pro
regulating synaptic membrane exocytosis protein 2 isoform X23 XP_005251163.1:p.Arg1034= XP_005251163.1:p.Arg1034Pro
regulating synaptic membrane exocytosis protein 2 isoform X25 XP_005251164.1:p.Arg1034= XP_005251164.1:p.Arg1034Pro
regulating synaptic membrane exocytosis protein 2 isoform X2 XP_016869495.1:p.Arg1092= XP_016869495.1:p.Arg1092Pro
regulating synaptic membrane exocytosis protein 2 isoform X5 XP_016869497.1:p.Arg1108= XP_016869497.1:p.Arg1108Pro
regulating synaptic membrane exocytosis protein 2 isoform X10 XP_016869498.1:p.Arg1108= XP_016869498.1:p.Arg1108Pro
regulating synaptic membrane exocytosis protein 2 isoform X12 XP_016869499.1:p.Arg1061= XP_016869499.1:p.Arg1061Pro
regulating synaptic membrane exocytosis protein 2 isoform X13 XP_016869500.1:p.Arg1092= XP_016869500.1:p.Arg1092Pro
regulating synaptic membrane exocytosis protein 2 isoform X16 XP_016869501.1:p.Arg1092= XP_016869501.1:p.Arg1092Pro
regulating synaptic membrane exocytosis protein 2 isoform X21 XP_016869504.1:p.Arg1061= XP_016869504.1:p.Arg1061Pro
regulating synaptic membrane exocytosis protein 2 isoform X22 XP_016869505.1:p.Arg1045= XP_016869505.1:p.Arg1045Pro
regulating synaptic membrane exocytosis protein 2 isoform X20 XP_016869503.1:p.Arg987= XP_016869503.1:p.Arg987Pro
regulating synaptic membrane exocytosis protein 2 isoform X28 XP_016869511.1:p.Arg842= XP_016869511.1:p.Arg842Pro
regulating synaptic membrane exocytosis protein 2 isoform X30 XP_016869525.1:p.Arg795= XP_016869525.1:p.Arg795Pro
regulating synaptic membrane exocytosis protein 2 isoform X3 XP_047278424.1:p.Arg1092= XP_047278424.1:p.Arg1092Pro
regulating synaptic membrane exocytosis protein 2 isoform X4 XP_047278425.1:p.Arg1078= XP_047278425.1:p.Arg1078Pro
regulating synaptic membrane exocytosis protein 2 isoform X6 XP_047278426.1:p.Arg1064= XP_047278426.1:p.Arg1064Pro
regulating synaptic membrane exocytosis protein 2 isoform X7 XP_047278427.1:p.Arg1048= XP_047278427.1:p.Arg1048Pro
regulating synaptic membrane exocytosis protein 2 isoform X8 XP_047278428.1:p.Arg1048= XP_047278428.1:p.Arg1048Pro
regulating synaptic membrane exocytosis protein 2 isoform X9 XP_047278429.1:p.Arg1045= XP_047278429.1:p.Arg1045Pro
regulating synaptic membrane exocytosis protein 2 isoform X11 XP_047278430.1:p.Arg1034= XP_047278430.1:p.Arg1034Pro
regulating synaptic membrane exocytosis protein 2 isoform X14 XP_047278431.1:p.Arg1017= XP_047278431.1:p.Arg1017Pro
regulating synaptic membrane exocytosis protein 2 isoform X15 XP_047278432.1:p.Arg1001= XP_047278432.1:p.Arg1001Pro
regulating synaptic membrane exocytosis protein 2 isoform X17 XP_047278433.1:p.Arg1001= XP_047278433.1:p.Arg1001Pro
regulating synaptic membrane exocytosis protein 2 isoform X18 XP_047278434.1:p.Arg1050= XP_047278434.1:p.Arg1050Pro
regulating synaptic membrane exocytosis protein 2 isoform X19 XP_047278435.1:p.Arg1048= XP_047278435.1:p.Arg1048Pro
regulating synaptic membrane exocytosis protein 2 isoform X24 XP_047278436.1:p.Arg1048= XP_047278436.1:p.Arg1048Pro
regulating synaptic membrane exocytosis protein 2 isoform X26 XP_047278437.1:p.Arg1001= XP_047278437.1:p.Arg1001Pro
regulating synaptic membrane exocytosis protein 2 isoform X27 XP_047278438.1:p.Arg987= XP_047278438.1:p.Arg987Pro
regulating synaptic membrane exocytosis protein 2 isoform X29 XP_047278439.1:p.Arg1034= XP_047278439.1:p.Arg1034Pro
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#.

3 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2748087900 Nov 08, 2017 (151)
2 GNOMAD ss2870842196 Nov 08, 2017 (151)
3 TOPMED ss4798532936 Apr 27, 2021 (155)
4 gnomAD - Genomes NC_000008.11 - 103989385 Apr 27, 2021 (155)
5 TopMed NC_000008.11 - 103989385 Apr 27, 2021 (155)
6 ALFA NC_000008.11 - 103989385 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
ss2748087900, ss2870842196 NC_000008.10:105001612:G:C NC_000008.11:103989384:G:C (self)
306399719, 635910496, 8689517566, ss4798532936 NC_000008.11:103989384:G:C NC_000008.11:103989384:G:C (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 rs1477558069

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
Top Help

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