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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.

rs1474410630

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:24671423 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/247230, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SRRM1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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 247230 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 132298 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 48368 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34266 A=0.99997 G=0.00003
gnomAD - Exomes African Sub 16188 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10032 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6078 A=1.0000 G=0.0000
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 1 NC_000001.11:g.24671423A>G
GRCh37.p13 chr 1 NC_000001.10:g.24997914A>G
Gene: SRRM1, serine and arginine repetitive matrix 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SRRM1 transcript variant 3 NM_001303449.1:c.2357A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 3 NP_001290378.1:p.Lys786Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 6 NM_001366566.1:c.2189A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 4 NP_001353495.1:p.Lys730Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 14 NM_001366575.1:c.2471A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 11 NP_001353504.1:p.Lys824Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 20 NM_001366581.1:c.2384A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 15 NP_001353510.1:p.Lys795Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 29 NM_001366589.1:c.2429A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 22 NP_001353518.1:p.Lys810Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 9 NM_001366569.1:c.2477A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 7 NP_001353498.1:p.Lys826Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 16 NM_001366576.1:c.2387A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 12 NP_001353505.1:p.Lys796Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 13 NM_001366573.1:c.2225A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 10 NP_001353502.1:p.Lys742Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 4 NM_001366565.1:c.2189A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 4 NP_001353494.1:p.Lys730Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 30 NM_001366590.1:c.2225A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 10 NP_001353519.1:p.Lys742Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 25 NM_001366587.1:c.2141A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 20 NP_001353516.1:p.Lys714Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 44 NM_001366597.1:c.2363A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 26 NP_001353526.1:p.Lys788Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 7 NM_001366567.1:c.2183A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 5 NP_001353496.1:p.Lys728Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 26 NM_001366588.1:c.2432A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 21 NP_001353517.1:p.Lys811Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 22 NM_001366584.1:c.2183A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 5 NP_001353513.1:p.Lys728Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 10 NM_001366570.1:c.2222A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 8 NP_001353499.1:p.Lys741Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 41 NM_001366600.1:c.2231A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 6 NP_001353529.1:p.Lys744Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 46 NM_001366598.1:c.2186A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 9 NP_001353527.1:p.Lys729Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 35 NM_001366592.1:c.2342A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 23 NP_001353521.1:p.Lys781Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 21 NM_001366582.1:c.2435A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 16 NP_001353511.1:p.Lys812Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 38 NM_001366594.1:c.2138A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 14 NP_001353523.1:p.Lys713Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 36 NM_001366593.1:c.2228A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 18 NP_001353522.1:p.Lys743Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 19 NM_001366578.1:c.2138A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 14 NP_001353507.1:p.Lys713Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 48 NM_001366599.1:c.2183A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 5 NP_001353528.1:p.Lys728Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 42 NM_001366595.1:c.2480A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 24 NP_001353524.1:p.Lys827Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 43 NM_001366596.1:c.2273A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 25 NP_001353525.1:p.Lys758Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 24 NM_001366586.1:c.2099A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 19 NP_001353515.1:p.Lys700Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 8 NM_001366568.1:c.2231A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 6 NP_001353497.1:p.Lys744Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 17 NM_001366577.1:c.2390A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 13 NP_001353506.1:p.Lys797Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 23 NM_001366585.1:c.2228A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 18 NP_001353514.1:p.Lys743Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 11 NM_001366571.1:c.2231A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 6 NP_001353500.1:p.Lys744Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 12 NM_001366572.1:c.2186A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 9 NP_001353501.1:p.Lys729Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 31 NM_001366591.1:c.2141A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 20 NP_001353520.1:p.Lys714Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 2 NM_005839.4:c.2438A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 2 NP_005830.2:p.Lys813Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 1 NM_001303448.2:c.2474A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform 1 NP_001290377.1:p.Lys825Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant 39 NR_159388.1:n.4318A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant 34 NR_159386.1:n.2486A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant 40 NR_159389.1:n.4275A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant 45 NR_159390.1:n.2552A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant 28 NR_159383.1:n.2674A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant 33 NR_159385.1:n.4227A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant 5 NR_159378.1:n.4612A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant 27 NR_159382.1:n.2501A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant 15 NR_159379.1:n.4281A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant 47 NR_159391.1:n.4323A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant 18 NR_159380.1:n.2543A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant 32 NR_159384.1:n.2453A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant 37 NR_159387.1:n.2673A>G N/A Non Coding Transcript Variant
SRRM1 transcript variant X22 XM_017000034.2:c. N/A Genic Downstream Transcript Variant
SRRM1 transcript variant X23 XM_047427394.1:c. N/A Genic Downstream Transcript Variant
SRRM1 transcript variant X24 XM_047427397.1:c. N/A Genic Downstream Transcript Variant
SRRM1 transcript variant X1 XM_017000011.2:c.2360A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X1 XP_016855500.1:p.Lys787Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X2 XM_017000012.2:c.2354A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X2 XP_016855501.1:p.Lys785Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X3 XM_017000013.2:c.2321A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X3 XP_016855502.1:p.Lys774Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X4 XM_017000014.2:c.2318A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X4 XP_016855503.1:p.Lys773Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X5 XM_017000015.2:c.2315A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X5 XP_016855504.1:p.Lys772Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X6 XM_047427027.1:c.2312A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X6 XP_047282983.1:p.Lys771Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X7 XM_017000017.2:c.2270A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X7 XP_016855506.1:p.Lys757Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X8 XM_047427056.1:c.2267A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X8 XP_047283012.1:p.Lys756Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X9 XM_047427068.1:c.2231A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X9 XP_047283024.1:p.Lys744Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X10 XM_047427112.1:c.2228A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X10 XP_047283068.1:p.Lys743Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X11 XM_047427126.1:c.2225A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X11 XP_047283082.1:p.Lys742Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X12 XM_047427145.1:c.2222A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X12 XP_047283101.1:p.Lys741Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X13 XM_047427154.1:c.2381A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X13 XP_047283110.1:p.Lys794Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X14 XM_047427188.1:c.2348A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X14 XP_047283144.1:p.Lys783Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X15 XM_047427220.1:c.2345A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X15 XP_047283176.1:p.Lys782Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X16 XM_047427247.1:c.2339A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X16 XP_047283203.1:p.Lys780Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X17 XM_047427257.1:c.2231A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X17 XP_047283213.1:p.Lys744Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X18 XM_047427270.1:c.2231A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X17 XP_047283226.1:p.Lys744Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X19 XM_047427315.1:c.2180A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X18 XP_047283271.1:p.Lys727Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X20 XM_047427340.1:c.2135A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X19 XP_047283296.1:p.Lys712Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X21 XM_047427357.1:c.2093A>G K [AAA] > R [AGA] Coding Sequence Variant
serine/arginine repetitive matrix protein 1 isoform X20 XP_047283313.1:p.Lys698Arg K (Lys) > R (Arg) Missense Variant
SRRM1 transcript variant X25 XR_007062492.1:n. N/A Genic Downstream Transcript 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 A= G
GRCh38.p14 chr 1 NC_000001.11:g.24671423= NC_000001.11:g.24671423A>G
GRCh37.p13 chr 1 NC_000001.10:g.24997914= NC_000001.10:g.24997914A>G
SRRM1 transcript variant 2 NM_005839.4:c.2438= NM_005839.4:c.2438A>G
SRRM1 transcript variant 2 NM_005839.3:c.2438= NM_005839.3:c.2438A>G
SRRM1 transcript variant X1 XM_017000011.2:c.2360= XM_017000011.2:c.2360A>G
SRRM1 transcript variant X2 XM_017000011.1:c.2360= XM_017000011.1:c.2360A>G
SRRM1 transcript variant X2 XM_017000012.2:c.2354= XM_017000012.2:c.2354A>G
SRRM1 transcript variant X3 XM_017000012.1:c.2354= XM_017000012.1:c.2354A>G
SRRM1 transcript variant X3 XM_017000013.2:c.2321= XM_017000013.2:c.2321A>G
SRRM1 transcript variant X4 XM_017000013.1:c.2321= XM_017000013.1:c.2321A>G
SRRM1 transcript variant X4 XM_017000014.2:c.2318= XM_017000014.2:c.2318A>G
SRRM1 transcript variant X5 XM_017000014.1:c.2318= XM_017000014.1:c.2318A>G
SRRM1 transcript variant X5 XM_017000015.2:c.2315= XM_017000015.2:c.2315A>G
SRRM1 transcript variant X6 XM_017000015.1:c.2315= XM_017000015.1:c.2315A>G
SRRM1 transcript variant X7 XM_017000017.2:c.2270= XM_017000017.2:c.2270A>G
SRRM1 transcript variant X8 XM_017000017.1:c.2270= XM_017000017.1:c.2270A>G
SRRM1 transcript variant 1 NM_001303448.2:c.2474= NM_001303448.2:c.2474A>G
SRRM1 transcript variant 1 NM_001303448.1:c.2474= NM_001303448.1:c.2474A>G
SRRM1 transcript variant 5 NR_159378.1:n.4612= NR_159378.1:n.4612A>G
SRRM1 transcript variant 8 NM_001366568.1:c.2231= NM_001366568.1:c.2231A>G
SRRM1 transcript variant 23 NM_001366585.1:c.2228= NM_001366585.1:c.2228A>G
SRRM1 transcript variant 13 NM_001366573.1:c.2225= NM_001366573.1:c.2225A>G
SRRM1 transcript variant 22 NM_001366584.1:c.2183= NM_001366584.1:c.2183A>G
SRRM1 transcript variant 25 NM_001366587.1:c.2141= NM_001366587.1:c.2141A>G
SRRM1 transcript variant 46 NM_001366598.1:c.2186= NM_001366598.1:c.2186A>G
SRRM1 transcript variant 47 NR_159391.1:n.4323= NR_159391.1:n.4323A>G
SRRM1 transcript variant 39 NR_159388.1:n.4318= NR_159388.1:n.4318A>G
SRRM1 transcript variant 11 NM_001366571.1:c.2231= NM_001366571.1:c.2231A>G
SRRM1 transcript variant 36 NM_001366593.1:c.2228= NM_001366593.1:c.2228A>G
SRRM1 transcript variant 15 NR_159379.1:n.4281= NR_159379.1:n.4281A>G
SRRM1 transcript variant 30 NM_001366590.1:c.2225= NM_001366590.1:c.2225A>G
SRRM1 transcript variant 10 NM_001366570.1:c.2222= NM_001366570.1:c.2222A>G
SRRM1 transcript variant 40 NR_159389.1:n.4275= NR_159389.1:n.4275A>G
SRRM1 transcript variant 4 NM_001366565.1:c.2189= NM_001366565.1:c.2189A>G
SRRM1 transcript variant 12 NM_001366572.1:c.2186= NM_001366572.1:c.2186A>G
SRRM1 transcript variant 7 NM_001366567.1:c.2183= NM_001366567.1:c.2183A>G
SRRM1 transcript variant 33 NR_159385.1:n.4227= NR_159385.1:n.4227A>G
SRRM1 transcript variant 31 NM_001366591.1:c.2141= NM_001366591.1:c.2141A>G
SRRM1 transcript variant 38 NM_001366594.1:c.2138= NM_001366594.1:c.2138A>G
SRRM1 transcript variant 24 NM_001366586.1:c.2099= NM_001366586.1:c.2099A>G
SRRM1 transcript variant X19 XM_047427315.1:c.2180= XM_047427315.1:c.2180A>G
SRRM1 transcript variant X20 XM_047427340.1:c.2135= XM_047427340.1:c.2135A>G
SRRM1 transcript variant X21 XM_047427357.1:c.2093= XM_047427357.1:c.2093A>G
SRRM1 transcript variant X18 XM_047427270.1:c.2231= XM_047427270.1:c.2231A>G
SRRM1 transcript variant X17 XM_047427257.1:c.2231= XM_047427257.1:c.2231A>G
SRRM1 transcript variant 28 NR_159383.1:n.2674= NR_159383.1:n.2674A>G
SRRM1 transcript variant 37 NR_159387.1:n.2673= NR_159387.1:n.2673A>G
SRRM1 transcript variant 41 NM_001366600.1:c.2231= NM_001366600.1:c.2231A>G
SRRM1 transcript variant 3 NM_001303449.1:c.2357= NM_001303449.1:c.2357A>G
SRRM1 transcript variant 44 NM_001366597.1:c.2363= NM_001366597.1:c.2363A>G
SRRM1 transcript variant 6 NM_001366566.1:c.2189= NM_001366566.1:c.2189A>G
SRRM1 transcript variant 48 NM_001366599.1:c.2183= NM_001366599.1:c.2183A>G
SRRM1 transcript variant X6 XM_047427027.1:c.2312= XM_047427027.1:c.2312A>G
SRRM1 transcript variant 45 NR_159390.1:n.2552= NR_159390.1:n.2552A>G
SRRM1 transcript variant 18 NR_159380.1:n.2543= NR_159380.1:n.2543A>G
SRRM1 transcript variant 19 NM_001366578.1:c.2138= NM_001366578.1:c.2138A>G
SRRM1 transcript variant X8 XM_047427056.1:c.2267= XM_047427056.1:c.2267A>G
SRRM1 transcript variant 43 NM_001366596.1:c.2273= NM_001366596.1:c.2273A>G
SRRM1 transcript variant 42 NM_001366595.1:c.2480= NM_001366595.1:c.2480A>G
SRRM1 transcript variant 9 NM_001366569.1:c.2477= NM_001366569.1:c.2477A>G
SRRM1 transcript variant X9 XM_047427068.1:c.2231= XM_047427068.1:c.2231A>G
SRRM1 transcript variant 27 NR_159382.1:n.2501= NR_159382.1:n.2501A>G
SRRM1 transcript variant X10 XM_047427112.1:c.2228= XM_047427112.1:c.2228A>G
SRRM1 transcript variant 14 NM_001366575.1:c.2471= NM_001366575.1:c.2471A>G
SRRM1 transcript variant X11 XM_047427126.1:c.2225= XM_047427126.1:c.2225A>G
SRRM1 transcript variant X12 XM_047427145.1:c.2222= XM_047427145.1:c.2222A>G
SRRM1 transcript variant 34 NR_159386.1:n.2486= NR_159386.1:n.2486A>G
SRRM1 transcript variant 21 NM_001366582.1:c.2435= NM_001366582.1:c.2435A>G
SRRM1 transcript variant 26 NM_001366588.1:c.2432= NM_001366588.1:c.2432A>G
SRRM1 transcript variant 29 NM_001366589.1:c.2429= NM_001366589.1:c.2429A>G
SRRM1 transcript variant 32 NR_159384.1:n.2453= NR_159384.1:n.2453A>G
SRRM1 transcript variant 17 NM_001366577.1:c.2390= NM_001366577.1:c.2390A>G
SRRM1 transcript variant 16 NM_001366576.1:c.2387= NM_001366576.1:c.2387A>G
SRRM1 transcript variant 20 NM_001366581.1:c.2384= NM_001366581.1:c.2384A>G
SRRM1 transcript variant X13 XM_047427154.1:c.2381= XM_047427154.1:c.2381A>G
SRRM1 transcript variant X14 XM_047427188.1:c.2348= XM_047427188.1:c.2348A>G
SRRM1 transcript variant X15 XM_047427220.1:c.2345= XM_047427220.1:c.2345A>G
SRRM1 transcript variant 35 NM_001366592.1:c.2342= NM_001366592.1:c.2342A>G
SRRM1 transcript variant X16 XM_047427247.1:c.2339= XM_047427247.1:c.2339A>G
serine/arginine repetitive matrix protein 1 isoform 2 NP_005830.2:p.Lys813= NP_005830.2:p.Lys813Arg
serine/arginine repetitive matrix protein 1 isoform X1 XP_016855500.1:p.Lys787= XP_016855500.1:p.Lys787Arg
serine/arginine repetitive matrix protein 1 isoform X2 XP_016855501.1:p.Lys785= XP_016855501.1:p.Lys785Arg
serine/arginine repetitive matrix protein 1 isoform X3 XP_016855502.1:p.Lys774= XP_016855502.1:p.Lys774Arg
serine/arginine repetitive matrix protein 1 isoform X4 XP_016855503.1:p.Lys773= XP_016855503.1:p.Lys773Arg
serine/arginine repetitive matrix protein 1 isoform X5 XP_016855504.1:p.Lys772= XP_016855504.1:p.Lys772Arg
serine/arginine repetitive matrix protein 1 isoform X7 XP_016855506.1:p.Lys757= XP_016855506.1:p.Lys757Arg
serine/arginine repetitive matrix protein 1 isoform 1 NP_001290377.1:p.Lys825= NP_001290377.1:p.Lys825Arg
serine/arginine repetitive matrix protein 1 isoform 6 NP_001353497.1:p.Lys744= NP_001353497.1:p.Lys744Arg
serine/arginine repetitive matrix protein 1 isoform 18 NP_001353514.1:p.Lys743= NP_001353514.1:p.Lys743Arg
serine/arginine repetitive matrix protein 1 isoform 10 NP_001353502.1:p.Lys742= NP_001353502.1:p.Lys742Arg
serine/arginine repetitive matrix protein 1 isoform 5 NP_001353513.1:p.Lys728= NP_001353513.1:p.Lys728Arg
serine/arginine repetitive matrix protein 1 isoform 20 NP_001353516.1:p.Lys714= NP_001353516.1:p.Lys714Arg
serine/arginine repetitive matrix protein 1 isoform 9 NP_001353527.1:p.Lys729= NP_001353527.1:p.Lys729Arg
serine/arginine repetitive matrix protein 1 isoform 6 NP_001353500.1:p.Lys744= NP_001353500.1:p.Lys744Arg
serine/arginine repetitive matrix protein 1 isoform 18 NP_001353522.1:p.Lys743= NP_001353522.1:p.Lys743Arg
serine/arginine repetitive matrix protein 1 isoform 10 NP_001353519.1:p.Lys742= NP_001353519.1:p.Lys742Arg
serine/arginine repetitive matrix protein 1 isoform 8 NP_001353499.1:p.Lys741= NP_001353499.1:p.Lys741Arg
serine/arginine repetitive matrix protein 1 isoform 4 NP_001353494.1:p.Lys730= NP_001353494.1:p.Lys730Arg
serine/arginine repetitive matrix protein 1 isoform 9 NP_001353501.1:p.Lys729= NP_001353501.1:p.Lys729Arg
serine/arginine repetitive matrix protein 1 isoform 5 NP_001353496.1:p.Lys728= NP_001353496.1:p.Lys728Arg
serine/arginine repetitive matrix protein 1 isoform 20 NP_001353520.1:p.Lys714= NP_001353520.1:p.Lys714Arg
serine/arginine repetitive matrix protein 1 isoform 14 NP_001353523.1:p.Lys713= NP_001353523.1:p.Lys713Arg
serine/arginine repetitive matrix protein 1 isoform 19 NP_001353515.1:p.Lys700= NP_001353515.1:p.Lys700Arg
serine/arginine repetitive matrix protein 1 isoform X18 XP_047283271.1:p.Lys727= XP_047283271.1:p.Lys727Arg
serine/arginine repetitive matrix protein 1 isoform X19 XP_047283296.1:p.Lys712= XP_047283296.1:p.Lys712Arg
serine/arginine repetitive matrix protein 1 isoform X20 XP_047283313.1:p.Lys698= XP_047283313.1:p.Lys698Arg
serine/arginine repetitive matrix protein 1 isoform X17 XP_047283226.1:p.Lys744= XP_047283226.1:p.Lys744Arg
serine/arginine repetitive matrix protein 1 isoform X17 XP_047283213.1:p.Lys744= XP_047283213.1:p.Lys744Arg
serine/arginine repetitive matrix protein 1 isoform 6 NP_001353529.1:p.Lys744= NP_001353529.1:p.Lys744Arg
serine/arginine repetitive matrix protein 1 isoform 3 NP_001290378.1:p.Lys786= NP_001290378.1:p.Lys786Arg
serine/arginine repetitive matrix protein 1 isoform 26 NP_001353526.1:p.Lys788= NP_001353526.1:p.Lys788Arg
serine/arginine repetitive matrix protein 1 isoform 4 NP_001353495.1:p.Lys730= NP_001353495.1:p.Lys730Arg
serine/arginine repetitive matrix protein 1 isoform 5 NP_001353528.1:p.Lys728= NP_001353528.1:p.Lys728Arg
serine/arginine repetitive matrix protein 1 isoform X6 XP_047282983.1:p.Lys771= XP_047282983.1:p.Lys771Arg
serine/arginine repetitive matrix protein 1 isoform 14 NP_001353507.1:p.Lys713= NP_001353507.1:p.Lys713Arg
serine/arginine repetitive matrix protein 1 isoform X8 XP_047283012.1:p.Lys756= XP_047283012.1:p.Lys756Arg
serine/arginine repetitive matrix protein 1 isoform 25 NP_001353525.1:p.Lys758= NP_001353525.1:p.Lys758Arg
serine/arginine repetitive matrix protein 1 isoform 24 NP_001353524.1:p.Lys827= NP_001353524.1:p.Lys827Arg
serine/arginine repetitive matrix protein 1 isoform 7 NP_001353498.1:p.Lys826= NP_001353498.1:p.Lys826Arg
serine/arginine repetitive matrix protein 1 isoform X9 XP_047283024.1:p.Lys744= XP_047283024.1:p.Lys744Arg
serine/arginine repetitive matrix protein 1 isoform X10 XP_047283068.1:p.Lys743= XP_047283068.1:p.Lys743Arg
serine/arginine repetitive matrix protein 1 isoform 11 NP_001353504.1:p.Lys824= NP_001353504.1:p.Lys824Arg
serine/arginine repetitive matrix protein 1 isoform X11 XP_047283082.1:p.Lys742= XP_047283082.1:p.Lys742Arg
serine/arginine repetitive matrix protein 1 isoform X12 XP_047283101.1:p.Lys741= XP_047283101.1:p.Lys741Arg
serine/arginine repetitive matrix protein 1 isoform 16 NP_001353511.1:p.Lys812= NP_001353511.1:p.Lys812Arg
serine/arginine repetitive matrix protein 1 isoform 21 NP_001353517.1:p.Lys811= NP_001353517.1:p.Lys811Arg
serine/arginine repetitive matrix protein 1 isoform 22 NP_001353518.1:p.Lys810= NP_001353518.1:p.Lys810Arg
serine/arginine repetitive matrix protein 1 isoform 13 NP_001353506.1:p.Lys797= NP_001353506.1:p.Lys797Arg
serine/arginine repetitive matrix protein 1 isoform 12 NP_001353505.1:p.Lys796= NP_001353505.1:p.Lys796Arg
serine/arginine repetitive matrix protein 1 isoform 15 NP_001353510.1:p.Lys795= NP_001353510.1:p.Lys795Arg
serine/arginine repetitive matrix protein 1 isoform X13 XP_047283110.1:p.Lys794= XP_047283110.1:p.Lys794Arg
serine/arginine repetitive matrix protein 1 isoform X14 XP_047283144.1:p.Lys783= XP_047283144.1:p.Lys783Arg
serine/arginine repetitive matrix protein 1 isoform X15 XP_047283176.1:p.Lys782= XP_047283176.1:p.Lys782Arg
serine/arginine repetitive matrix protein 1 isoform 23 NP_001353521.1:p.Lys781= NP_001353521.1:p.Lys781Arg
serine/arginine repetitive matrix protein 1 isoform X16 XP_047283203.1:p.Lys780= XP_047283203.1:p.Lys780Arg
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2731262477 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000001.10 - 24997914 Jul 12, 2019 (153)
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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
276363, ss2731262477 NC_000001.10:24997913:A:G NC_000001.11:24671422:A:G (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 rs1474410630

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