literature search in DbSNP
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7.8 years ago

hai frds,

I am using the DBsnp database how to find the literature paper?

Filters activated: Homo sapiens, missense. Clear all to show 12252 items.

Select item 28933990 1.

rs28933990 [Homo sapiens]

GTCACCGCAGGATTCCTTCCCAGCC[C/T]GGTTCAAAGCCATCCACTTCATCCA

Chromosome: 15:89210794 Gene: RLBP1 (GeneView) Functional Consequence: missense Allele Origin: T(germline)/C(germline) Clinical significance: Pathogenic Validated: by cluster,by frequency HGVS: NC_000015.10:g.89210794G>A, NC_000015.9:g.89754025G>A, NG_008116.1:g.15898C>T, NM_000326.4:c.700C>T, NP_000317.1:p.Arg234Trp, XM_011521870.2:c.700C>T, XM_017022460.1:c.727C>T, XP_011520172.1:p.Arg234Trp, XP_016877949.1:p.Arg243Trp

VarviewProtein3D Select item 28933989 2.

rs28933989 has merged into rs137853290 [Homo sapiens]

GGCTACCCTGGTGTCCTCTCTAGTC[A/C/G]GGACAAGTATGGCCGAGTGGTCATG

Chromosome: 15:89215133 Gene: RLBP1 (GeneView) Functional Consequence: missense Allele Origin: G(germline)/A(germline) Clinical significance: Pathogenic Validated: by cluster,by frequency HGVS: NC_000015.10:g.89215133C>G, NC_000015.10:g.89215133C>T, NC_000015.9:g.89758364C>G, NC_000015.9:g.89758364C>T, NG_008116.1:g.11559G>A, NG_008116.1:g.11559G>C, NM_000326.4:c.452G>A, NM_000326.4:c.452G>C, NP_000317.1:p.Arg151Gln, NP_000317.1:p.Arg151Pro, XM_011521870.2:c.452G>A, XM_011521870.2:c.452G>C, XM_017022460.1:c.479G>A, XM_017022460.1:c.479G>C, XP_011520172.1:p.Arg151Gln, XP_011520172.1:p.Arg151Pro, XP_016877949.1:p.Arg160Gln, XP_016877949.1:p.Arg160Pro

VarviewProtein3D

RNA-Seq • 1.3k views
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I wouldn't expect that every dbSNP entry has a linked article, probably a lot of the data in there is just deposited.

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hai frd,

RLBP1 gene in mutation (missense mutation) and not for the link . only shown as in Varview Protein3D . i have need for in PubMed .https://www.ncbi.nlm.nih.gov/snp/?term=(RLBP1+) see this link

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Please rephrase, that sentence doesn't make sense to me.

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