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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.

rs1481331046

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:89402939 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/251454, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SEMA4D : 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 251454 A=0.999996 C=0.000004
gnomAD - Exomes European Sub 135382 A=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 49010 A=1.00000 C=0.00000
gnomAD - Exomes American Sub 34588 A=1.00000 C=0.00000
gnomAD - Exomes African Sub 16256 A=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 A=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6140 A=1.0000 C=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 9 NC_000009.12:g.89402939A>C
GRCh37.p13 chr 9 NC_000009.11:g.92017854A>C
Gene: SEMA4D, semaphorin 4D (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SEMA4D transcript variant 4 NM_001371195.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform 1 precursor NP_001358124.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant 2 NM_001142287.2:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform 2 precursor NP_001135759.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant 11 NM_001371202.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform 3 precursor NP_001358131.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant 9 NM_001371200.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform 2 precursor NP_001358129.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant 5 NM_001371196.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform 1 precursor NP_001358125.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant 7 NM_001371198.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform 2 precursor NP_001358127.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant 10 NM_001371201.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform 2 precursor NP_001358130.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant 1 NM_006378.4:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform 1 precursor NP_006369.3:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant 8 NM_001371199.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform 2 precursor NP_001358128.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant 6 NM_001371197.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform 1 precursor NP_001358126.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant 3 NM_001371194.2:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform 1 precursor NP_001358123.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant 12 NR_163884.1:n.875T>G N/A Non Coding Transcript Variant
SEMA4D transcript variant 14 NR_163886.1:n.812T>G N/A Non Coding Transcript Variant
SEMA4D transcript variant 16 NR_163888.1:n.950T>G N/A Non Coding Transcript Variant
SEMA4D transcript variant 15 NR_163887.1:n.860T>G N/A Non Coding Transcript Variant
SEMA4D transcript variant 17 NR_163889.1:n.812T>G N/A Non Coding Transcript Variant
SEMA4D transcript variant 13 NR_163885.1:n.923T>G N/A Non Coding Transcript Variant
SEMA4D transcript variant X1 XM_047422606.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_047278562.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X2 XM_047422607.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_047278563.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X3 XM_011518133.3:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_011516435.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X4 XM_011518123.3:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_011516425.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X5 XM_011518134.3:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_011516436.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X9 XM_011518125.2:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_011516427.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X11 XM_011518130.3:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_011516432.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X6 XM_011518127.3:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_011516429.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X7 XM_017014193.3:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_016869682.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X8 XM_011518124.3:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_011516426.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X16 XM_011518131.3:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_011516433.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X10 XM_047422609.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_047278565.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X14 XM_011518128.3:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_011516430.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X39 XM_047422610.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_047278566.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X17 XM_047422611.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_047278567.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X40 XM_047422612.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_047278568.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X41 XM_047422613.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_047278569.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X12 XM_047422614.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_047278570.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X20 XM_047422615.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_047278571.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X13 XM_017014194.2:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_016869683.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X15 XM_047422617.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_047278573.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X18 XM_047422618.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_047278574.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X19 XM_017014198.2:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_016869687.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X21 XM_017014195.2:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_016869684.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X22 XM_011518129.2:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_011516431.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X23 XM_047422619.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X1 XP_047278575.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X24 XM_047422620.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X2 XP_047278576.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X25 XM_047422621.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X2 XP_047278577.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X26 XM_047422622.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X2 XP_047278578.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X27 XM_047422623.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X2 XP_047278579.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X28 XM_047422624.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X3 XP_047278580.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X29 XM_047422625.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X3 XP_047278581.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X30 XM_047422626.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X3 XP_047278582.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X31 XM_047422627.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X3 XP_047278583.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X32 XM_047422628.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X3 XP_047278584.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X33 XM_047422629.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X4 XP_047278585.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X34 XM_047422630.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X5 XP_047278586.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X37 XM_047422631.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X5 XP_047278587.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X36 XM_047422632.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X5 XP_047278588.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X35 XM_047422633.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X5 XP_047278589.1:p.Leu62Val L (Leu) > V (Val) Missense Variant
SEMA4D transcript variant X38 XM_047422634.1:c.184T>G L [TTG] > V [GTG] Coding Sequence Variant
semaphorin-4D isoform X5 XP_047278590.1:p.Leu62Val L (Leu) > V (Val) 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 A= C
GRCh38.p14 chr 9 NC_000009.12:g.89402939= NC_000009.12:g.89402939A>C
GRCh37.p13 chr 9 NC_000009.11:g.92017854= NC_000009.11:g.92017854A>C
SEMA4D transcript variant 1 NM_006378.4:c.184= NM_006378.4:c.184T>G
SEMA4D transcript variant 1 NM_006378.3:c.184= NM_006378.3:c.184T>G
SEMA4D transcript variant X7 XM_017014193.3:c.184= XM_017014193.3:c.184T>G
SEMA4D transcript variant X3 XM_017014193.2:c.184= XM_017014193.2:c.184T>G
SEMA4D transcript variant X3 XM_017014193.1:c.184= XM_017014193.1:c.184T>G
SEMA4D transcript variant X8 XM_011518124.3:c.184= XM_011518124.3:c.184T>G
SEMA4D transcript variant X1 XM_011518124.2:c.184= XM_011518124.2:c.184T>G
SEMA4D transcript variant X2 XM_011518124.1:c.184= XM_011518124.1:c.184T>G
SEMA4D transcript variant X4 XM_011518123.3:c.184= XM_011518123.3:c.184T>G
SEMA4D transcript variant X2 XM_011518123.2:c.184= XM_011518123.2:c.184T>G
SEMA4D transcript variant X1 XM_011518123.1:c.184= XM_011518123.1:c.184T>G
SEMA4D transcript variant X6 XM_011518127.3:c.184= XM_011518127.3:c.184T>G
SEMA4D transcript variant X6 XM_011518127.2:c.184= XM_011518127.2:c.184T>G
SEMA4D transcript variant X5 XM_011518127.1:c.184= XM_011518127.1:c.184T>G
SEMA4D transcript variant X14 XM_011518128.3:c.184= XM_011518128.3:c.184T>G
SEMA4D transcript variant X7 XM_011518128.2:c.184= XM_011518128.2:c.184T>G
SEMA4D transcript variant X6 XM_011518128.1:c.184= XM_011518128.1:c.184T>G
SEMA4D transcript variant X3 XM_011518133.3:c.184= XM_011518133.3:c.184T>G
SEMA4D transcript variant X10 XM_011518133.2:c.184= XM_011518133.2:c.184T>G
SEMA4D transcript variant X11 XM_011518133.1:c.184= XM_011518133.1:c.184T>G
SEMA4D transcript variant X11 XM_011518130.3:c.184= XM_011518130.3:c.184T>G
SEMA4D transcript variant X13 XM_011518130.2:c.184= XM_011518130.2:c.184T>G
SEMA4D transcript variant X8 XM_011518130.1:c.184= XM_011518130.1:c.184T>G
SEMA4D transcript variant X5 XM_011518134.3:c.184= XM_011518134.3:c.184T>G
SEMA4D transcript variant X17 XM_011518134.2:c.184= XM_011518134.2:c.184T>G
SEMA4D transcript variant X12 XM_011518134.1:c.184= XM_011518134.1:c.184T>G
SEMA4D transcript variant X16 XM_011518131.3:c.184= XM_011518131.3:c.184T>G
SEMA4D transcript variant X14 XM_011518131.2:c.184= XM_011518131.2:c.184T>G
SEMA4D transcript variant X9 XM_011518131.1:c.184= XM_011518131.1:c.184T>G
SEMA4D transcript variant X13 XM_017014194.2:c.184= XM_017014194.2:c.184T>G
SEMA4D transcript variant X5 XM_017014194.1:c.184= XM_017014194.1:c.184T>G
SEMA4D transcript variant X21 XM_017014195.2:c.184= XM_017014195.2:c.184T>G
SEMA4D transcript variant X9 XM_017014195.1:c.184= XM_017014195.1:c.184T>G
SEMA4D transcript variant X9 XM_011518125.2:c.184= XM_011518125.2:c.184T>G
SEMA4D transcript variant X4 XM_011518125.1:c.184= XM_011518125.1:c.184T>G
SEMA4D transcript variant X19 XM_017014198.2:c.184= XM_017014198.2:c.184T>G
SEMA4D transcript variant X16 XM_017014198.1:c.184= XM_017014198.1:c.184T>G
SEMA4D transcript variant 2 NM_001142287.2:c.184= NM_001142287.2:c.184T>G
SEMA4D transcript variant 2 NM_001142287.1:c.184= NM_001142287.1:c.184T>G
SEMA4D transcript variant 3 NM_001371194.2:c.184= NM_001371194.2:c.184T>G
SEMA4D transcript variant 3 NM_001371194.1:c.184= NM_001371194.1:c.184T>G
SEMA4D transcript variant X22 XM_011518129.2:c.184= XM_011518129.2:c.184T>G
SEMA4D transcript variant X8 XM_011518129.1:c.184= XM_011518129.1:c.184T>G
SEMA4D transcript variant X18 XM_047422618.1:c.184= XM_047422618.1:c.184T>G
SEMA4D transcript variant X34 XM_047422630.1:c.184= XM_047422630.1:c.184T>G
SEMA4D transcript variant X38 XM_047422634.1:c.184= XM_047422634.1:c.184T>G
SEMA4D transcript variant X37 XM_047422631.1:c.184= XM_047422631.1:c.184T>G
SEMA4D transcript variant X36 XM_047422632.1:c.184= XM_047422632.1:c.184T>G
SEMA4D transcript variant X35 XM_047422633.1:c.184= XM_047422633.1:c.184T>G
SEMA4D transcript variant X40 XM_047422612.1:c.184= XM_047422612.1:c.184T>G
SEMA4D transcript variant X39 XM_047422610.1:c.184= XM_047422610.1:c.184T>G
SEMA4D transcript variant X41 XM_047422613.1:c.184= XM_047422613.1:c.184T>G
SEMA4D transcript variant X17 XM_047422611.1:c.184= XM_047422611.1:c.184T>G
SEMA4D transcript variant X10 XM_047422609.1:c.184= XM_047422609.1:c.184T>G
SEMA4D transcript variant 5 NM_001371196.1:c.184= NM_001371196.1:c.184T>G
SEMA4D transcript variant X15 XM_047422617.1:c.184= XM_047422617.1:c.184T>G
SEMA4D transcript variant X24 XM_047422620.1:c.184= XM_047422620.1:c.184T>G
SEMA4D transcript variant X1 XM_047422606.1:c.184= XM_047422606.1:c.184T>G
SEMA4D transcript variant 6 NM_001371197.1:c.184= NM_001371197.1:c.184T>G
SEMA4D transcript variant X12 XM_047422614.1:c.184= XM_047422614.1:c.184T>G
SEMA4D transcript variant 9 NM_001371200.1:c.184= NM_001371200.1:c.184T>G
SEMA4D transcript variant X27 XM_047422623.1:c.184= XM_047422623.1:c.184T>G
SEMA4D transcript variant X2 XM_047422607.1:c.184= XM_047422607.1:c.184T>G
SEMA4D transcript variant 8 NM_001371199.1:c.184= NM_001371199.1:c.184T>G
SEMA4D transcript variant 4 NM_001371195.1:c.184= NM_001371195.1:c.184T>G
SEMA4D transcript variant X23 XM_047422619.1:c.184= XM_047422619.1:c.184T>G
SEMA4D transcript variant X28 XM_047422624.1:c.184= XM_047422624.1:c.184T>G
SEMA4D transcript variant 10 NM_001371201.1:c.184= NM_001371201.1:c.184T>G
SEMA4D transcript variant X25 XM_047422621.1:c.184= XM_047422621.1:c.184T>G
SEMA4D transcript variant X20 XM_047422615.1:c.184= XM_047422615.1:c.184T>G
SEMA4D transcript variant X26 XM_047422622.1:c.184= XM_047422622.1:c.184T>G
SEMA4D transcript variant 11 NM_001371202.1:c.184= NM_001371202.1:c.184T>G
SEMA4D transcript variant X29 XM_047422625.1:c.184= XM_047422625.1:c.184T>G
SEMA4D transcript variant X31 XM_047422627.1:c.184= XM_047422627.1:c.184T>G
SEMA4D transcript variant X30 XM_047422626.1:c.184= XM_047422626.1:c.184T>G
SEMA4D transcript variant 17 NR_163889.1:n.812= NR_163889.1:n.812T>G
SEMA4D transcript variant 7 NM_001371198.1:c.184= NM_001371198.1:c.184T>G
SEMA4D transcript variant X32 XM_047422628.1:c.184= XM_047422628.1:c.184T>G
SEMA4D transcript variant 16 NR_163888.1:n.950= NR_163888.1:n.950T>G
SEMA4D transcript variant 13 NR_163885.1:n.923= NR_163885.1:n.923T>G
SEMA4D transcript variant 12 NR_163884.1:n.875= NR_163884.1:n.875T>G
SEMA4D transcript variant 15 NR_163887.1:n.860= NR_163887.1:n.860T>G
SEMA4D transcript variant 14 NR_163886.1:n.812= NR_163886.1:n.812T>G
SEMA4D transcript variant X33 XM_047422629.1:c.184= XM_047422629.1:c.184T>G
semaphorin-4D isoform 1 precursor NP_006369.3:p.Leu62= NP_006369.3:p.Leu62Val
semaphorin-4D isoform X1 XP_016869682.1:p.Leu62= XP_016869682.1:p.Leu62Val
semaphorin-4D isoform X1 XP_011516426.1:p.Leu62= XP_011516426.1:p.Leu62Val
semaphorin-4D isoform X1 XP_011516425.1:p.Leu62= XP_011516425.1:p.Leu62Val
semaphorin-4D isoform X1 XP_011516429.1:p.Leu62= XP_011516429.1:p.Leu62Val
semaphorin-4D isoform X1 XP_011516430.1:p.Leu62= XP_011516430.1:p.Leu62Val
semaphorin-4D isoform X1 XP_011516435.1:p.Leu62= XP_011516435.1:p.Leu62Val
semaphorin-4D isoform X1 XP_011516432.1:p.Leu62= XP_011516432.1:p.Leu62Val
semaphorin-4D isoform X1 XP_011516436.1:p.Leu62= XP_011516436.1:p.Leu62Val
semaphorin-4D isoform X1 XP_011516433.1:p.Leu62= XP_011516433.1:p.Leu62Val
semaphorin-4D isoform X1 XP_016869683.1:p.Leu62= XP_016869683.1:p.Leu62Val
semaphorin-4D isoform X1 XP_016869684.1:p.Leu62= XP_016869684.1:p.Leu62Val
semaphorin-4D isoform X1 XP_011516427.1:p.Leu62= XP_011516427.1:p.Leu62Val
semaphorin-4D isoform X1 XP_016869687.1:p.Leu62= XP_016869687.1:p.Leu62Val
semaphorin-4D isoform 2 precursor NP_001135759.1:p.Leu62= NP_001135759.1:p.Leu62Val
semaphorin-4D isoform 1 precursor NP_001358123.1:p.Leu62= NP_001358123.1:p.Leu62Val
semaphorin-4D isoform X1 XP_011516431.1:p.Leu62= XP_011516431.1:p.Leu62Val
semaphorin-4D isoform X1 XP_047278574.1:p.Leu62= XP_047278574.1:p.Leu62Val
semaphorin-4D isoform X5 XP_047278586.1:p.Leu62= XP_047278586.1:p.Leu62Val
semaphorin-4D isoform X5 XP_047278590.1:p.Leu62= XP_047278590.1:p.Leu62Val
semaphorin-4D isoform X5 XP_047278587.1:p.Leu62= XP_047278587.1:p.Leu62Val
semaphorin-4D isoform X5 XP_047278588.1:p.Leu62= XP_047278588.1:p.Leu62Val
semaphorin-4D isoform X5 XP_047278589.1:p.Leu62= XP_047278589.1:p.Leu62Val
semaphorin-4D isoform X1 XP_047278568.1:p.Leu62= XP_047278568.1:p.Leu62Val
semaphorin-4D isoform X1 XP_047278566.1:p.Leu62= XP_047278566.1:p.Leu62Val
semaphorin-4D isoform X1 XP_047278569.1:p.Leu62= XP_047278569.1:p.Leu62Val
semaphorin-4D isoform X1 XP_047278567.1:p.Leu62= XP_047278567.1:p.Leu62Val
semaphorin-4D isoform X1 XP_047278565.1:p.Leu62= XP_047278565.1:p.Leu62Val
semaphorin-4D isoform 1 precursor NP_001358125.1:p.Leu62= NP_001358125.1:p.Leu62Val
semaphorin-4D isoform X1 XP_047278573.1:p.Leu62= XP_047278573.1:p.Leu62Val
semaphorin-4D isoform X2 XP_047278576.1:p.Leu62= XP_047278576.1:p.Leu62Val
semaphorin-4D isoform X1 XP_047278562.1:p.Leu62= XP_047278562.1:p.Leu62Val
semaphorin-4D isoform 1 precursor NP_001358126.1:p.Leu62= NP_001358126.1:p.Leu62Val
semaphorin-4D isoform X1 XP_047278570.1:p.Leu62= XP_047278570.1:p.Leu62Val
semaphorin-4D isoform 2 precursor NP_001358129.1:p.Leu62= NP_001358129.1:p.Leu62Val
semaphorin-4D isoform X2 XP_047278579.1:p.Leu62= XP_047278579.1:p.Leu62Val
semaphorin-4D isoform X1 XP_047278563.1:p.Leu62= XP_047278563.1:p.Leu62Val
semaphorin-4D isoform 2 precursor NP_001358128.1:p.Leu62= NP_001358128.1:p.Leu62Val
semaphorin-4D isoform 1 precursor NP_001358124.1:p.Leu62= NP_001358124.1:p.Leu62Val
semaphorin-4D isoform X1 XP_047278575.1:p.Leu62= XP_047278575.1:p.Leu62Val
semaphorin-4D isoform X3 XP_047278580.1:p.Leu62= XP_047278580.1:p.Leu62Val
semaphorin-4D isoform 2 precursor NP_001358130.1:p.Leu62= NP_001358130.1:p.Leu62Val
semaphorin-4D isoform X2 XP_047278577.1:p.Leu62= XP_047278577.1:p.Leu62Val
semaphorin-4D isoform X1 XP_047278571.1:p.Leu62= XP_047278571.1:p.Leu62Val
semaphorin-4D isoform X2 XP_047278578.1:p.Leu62= XP_047278578.1:p.Leu62Val
semaphorin-4D isoform 3 precursor NP_001358131.1:p.Leu62= NP_001358131.1:p.Leu62Val
semaphorin-4D isoform X3 XP_047278581.1:p.Leu62= XP_047278581.1:p.Leu62Val
semaphorin-4D isoform X3 XP_047278583.1:p.Leu62= XP_047278583.1:p.Leu62Val
semaphorin-4D isoform X3 XP_047278582.1:p.Leu62= XP_047278582.1:p.Leu62Val
semaphorin-4D isoform 2 precursor NP_001358127.1:p.Leu62= NP_001358127.1:p.Leu62Val
semaphorin-4D isoform X3 XP_047278584.1:p.Leu62= XP_047278584.1:p.Leu62Val
semaphorin-4D isoform X4 XP_047278585.1:p.Leu62= XP_047278585.1:p.Leu62Val
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 ss2737696723 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000009.11 - 92017854 Jul 13, 2019 (153)
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
6880510, ss2737696723 NC_000009.11:92017853:A:C NC_000009.12:89402938:A: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 rs1481331046

Help

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

Genome context:
Select flank length:

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

Software version is: 2.0.1.post820+afb47a3d