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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs12338

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr8:11853379 (GRCh38.p7) 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>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.37780 (92912/245928, GnomAD)
C=0.37428 (46997/125568, TOPMED)
C=0.3682 (11270/30606, GnomAD) (+ 4 more)
C=0.3624 (4713/13006, GO-ESP)
C=0.396 (1983/5008, 1000G)
C=0.409 (1576/3854, ALSPAC)
C=0.387 (1436/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CTSB : Missense Variant
Publications
1 citation
Genomic View
See rs on genome
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.p7 chr 8 NC_000008.11:g.11853379G>A
GRCh38.p7 chr 8 NC_000008.11:g.11853379G>C
GRCh38.p7 chr 8 NC_000008.11:g.11853379G>T
GRCh37.p13 chr 8 NC_000008.10:g.11710888G>A
GRCh37.p13 chr 8 NC_000008.10:g.11710888G>C
GRCh37.p13 chr 8 NC_000008.10:g.11710888G>T
CTSB RefSeqGene NG_009217.1:g.19759C>T
CTSB RefSeqGene NG_009217.1:g.19759C>G
CTSB RefSeqGene NG_009217.1:g.19759C>A
Gene: CTSB, cathepsin B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CTSB transcript variant 6 NM_001317237.1:c. N/A 5 Prime UTR Variant
CTSB transcript variant 1 NM_001908.4:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001899.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 1 NM_001908.4:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001899.1:p.Leu...

NP_001899.1:p.Leu26Val

L (Leu) > V (Val) Missense Variant
CTSB transcript variant 1 NM_001908.4:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_001899.1:p.Leu...

NP_001899.1:p.Leu26Met

L (Leu) > M (Met) Missense Variant
CTSB transcript variant 2 NM_147780.3:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680090.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 2 NM_147780.3:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680090.1:p.Leu...

NP_680090.1:p.Leu26Val

L (Leu) > V (Val) Missense Variant
CTSB transcript variant 2 NM_147780.3:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680090.1:p.Leu...

NP_680090.1:p.Leu26Met

L (Leu) > M (Met) Missense Variant
CTSB transcript variant 3 NM_147781.3:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680091.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 3 NM_147781.3:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680091.1:p.Leu...

NP_680091.1:p.Leu26Val

L (Leu) > V (Val) Missense Variant
CTSB transcript variant 3 NM_147781.3:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680091.1:p.Leu...

NP_680091.1:p.Leu26Met

L (Leu) > M (Met) Missense Variant
CTSB transcript variant 4 NM_147782.3:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680092.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 4 NM_147782.3:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680092.1:p.Leu...

NP_680092.1:p.Leu26Val

L (Leu) > V (Val) Missense Variant
CTSB transcript variant 4 NM_147782.3:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680092.1:p.Leu...

NP_680092.1:p.Leu26Met

L (Leu) > M (Met) Missense Variant
CTSB transcript variant 5 NM_147783.3:c.76C>T L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680093.1:p.Leu26= L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant 5 NM_147783.3:c.76C>G L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680093.1:p.Leu...

NP_680093.1:p.Leu26Val

L (Leu) > V (Val) Missense Variant
CTSB transcript variant 5 NM_147783.3:c.76C>A L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform 1 preproprotein NP_680093.1:p.Leu...

NP_680093.1:p.Leu26Met

L (Leu) > M (Met) Missense Variant
CTSB transcript variant X1 XM_017013097.1:c....

XM_017013097.1:c.76C>T

L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform X1 XP_016868586.1:p....

XP_016868586.1:p.Leu26=

L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant X1 XM_017013097.1:c....

XM_017013097.1:c.76C>G

L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform X1 XP_016868586.1:p....

XP_016868586.1:p.Leu26Val

L (Leu) > V (Val) Missense Variant
CTSB transcript variant X1 XM_017013097.1:c....

XM_017013097.1:c.76C>A

L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform X1 XP_016868586.1:p....

XP_016868586.1:p.Leu26Met

L (Leu) > M (Met) Missense Variant
CTSB transcript variant X2 XM_017013098.1:c....

XM_017013098.1:c.76C>T

L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform X1 XP_016868587.1:p....

XP_016868587.1:p.Leu26=

L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant X2 XM_017013098.1:c....

XM_017013098.1:c.76C>G

L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform X1 XP_016868587.1:p....

XP_016868587.1:p.Leu26Val

L (Leu) > V (Val) Missense Variant
CTSB transcript variant X2 XM_017013098.1:c....

XM_017013098.1:c.76C>A

L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform X1 XP_016868587.1:p....

XP_016868587.1:p.Leu26Met

L (Leu) > M (Met) Missense Variant
CTSB transcript variant X3 XM_011543812.2:c....

XM_011543812.2:c.76C>T

L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform X1 XP_011542114.1:p....

XP_011542114.1:p.Leu26=

L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant X3 XM_011543812.2:c....

XM_011543812.2:c.76C>G

L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform X1 XP_011542114.1:p....

XP_011542114.1:p.Leu26Val

L (Leu) > V (Val) Missense Variant
CTSB transcript variant X3 XM_011543812.2:c....

XM_011543812.2:c.76C>A

L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform X1 XP_011542114.1:p....

XP_011542114.1:p.Leu26Met

L (Leu) > M (Met) Missense Variant
CTSB transcript variant X4 XM_006716244.2:c....

XM_006716244.2:c.76C>T

L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform X1 XP_006716307.1:p....

XP_006716307.1:p.Leu26=

L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant X4 XM_006716244.2:c....

XM_006716244.2:c.76C>G

L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform X1 XP_006716307.1:p....

XP_006716307.1:p.Leu26Val

L (Leu) > V (Val) Missense Variant
CTSB transcript variant X4 XM_006716244.2:c....

XM_006716244.2:c.76C>A

L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform X1 XP_006716307.1:p....

XP_006716307.1:p.Leu26Met

L (Leu) > M (Met) Missense Variant
CTSB transcript variant X5 XM_017013099.1:c....

XM_017013099.1:c.76C>T

L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform X1 XP_016868588.1:p....

XP_016868588.1:p.Leu26=

L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant X5 XM_017013099.1:c....

XM_017013099.1:c.76C>G

L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform X1 XP_016868588.1:p....

XP_016868588.1:p.Leu26Val

L (Leu) > V (Val) Missense Variant
CTSB transcript variant X5 XM_017013099.1:c....

XM_017013099.1:c.76C>A

L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform X1 XP_016868588.1:p....

XP_016868588.1:p.Leu26Met

L (Leu) > M (Met) Missense Variant
CTSB transcript variant X6 XM_017013100.1:c....

XM_017013100.1:c.76C>T

L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform X1 XP_016868589.1:p....

XP_016868589.1:p.Leu26=

L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant X6 XM_017013100.1:c....

XM_017013100.1:c.76C>G

L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform X1 XP_016868589.1:p....

XP_016868589.1:p.Leu26Val

L (Leu) > V (Val) Missense Variant
CTSB transcript variant X6 XM_017013100.1:c....

XM_017013100.1:c.76C>A

L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform X1 XP_016868589.1:p....

XP_016868589.1:p.Leu26Met

L (Leu) > M (Met) Missense Variant
CTSB transcript variant X7 XM_006716245.2:c....

XM_006716245.2:c.76C>T

L [CTG] > L [TTG] Coding Sequence Variant
cathepsin B isoform X1 XP_006716308.1:p....

XP_006716308.1:p.Leu26=

L (Leu) > L (Leu) Synonymous Variant
CTSB transcript variant X7 XM_006716245.2:c....

XM_006716245.2:c.76C>G

L [CTG] > V [GTG] Coding Sequence Variant
cathepsin B isoform X1 XP_006716308.1:p....

XP_006716308.1:p.Leu26Val

L (Leu) > V (Val) Missense Variant
CTSB transcript variant X7 XM_006716245.2:c....

XM_006716245.2:c.76C>A

L [CTG] > M [ATG] Coding Sequence Variant
cathepsin B isoform X1 XP_006716308.1:p....

XP_006716308.1:p.Leu26Met

L (Leu) > M (Met) Missense Variant
CTSB transcript variant X8 XM_017013101.1:c....

XM_017013101.1:c.30C>T

P [CCC] > P [CCT] Coding Sequence Variant
cathepsin B isoform X2 XP_016868590.1:p....

XP_016868590.1:p.Pro10=

P (Pro) > P (Pro) Synonymous Variant
CTSB transcript variant X8 XM_017013101.1:c....

XM_017013101.1:c.30C>G

P [CCC] > P [CCG] Coding Sequence Variant
cathepsin B isoform X2 XP_016868590.1:p....

XP_016868590.1:p.Pro10=

P (Pro) > P (Pro) Synonymous Variant
CTSB transcript variant X8 XM_017013101.1:c....

XM_017013101.1:c.30C>A

P [CCC] > P [CCA] Coding Sequence Variant
cathepsin B isoform X2 XP_016868590.1:p....

XP_016868590.1:p.Pro10=

P (Pro) > P (Pro) Synonymous 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

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
The Genome Aggregation Database Global Study-wide 245928 G=0.62216 A=0.00001, C=0.37780, T=0.00003
The Genome Aggregation Database European Sub 133794 G=0.61344 A=0.00001, C=0.38654, T=0.00001
The Genome Aggregation Database Asian Sub 48002 G=0.5913 A=0.0000, C=0.4087, T=0.0000
The Genome Aggregation Database American Sub 33542 G=0.6508 A=0.0000, C=0.3491, T=0.0001
The Genome Aggregation Database African Sub 15284 G=0.6725 A=0.0000, C=0.3275, T=0.0000
The Genome Aggregation Database Ashkenazi Jewish Sub 9834 G=0.716 A=0.000, C=0.284, T=0.000
The Genome Aggregation Database Other Sub 5472 G=0.621 A=0.000, C=0.379, T=0.000
Trans-Omics for Precision Medicine Global Study-wide 125568 G=0.62572 C=0.37428
The Genome Aggregation Database Global Study-wide 30606 G=0.6317 T=0.0000, C=0.3682
The Genome Aggregation Database European Sub 18342 G=0.6226 T=0.0000, C=0.3774
The Genome Aggregation Database African Sub 8590 G=0.666 T=0.000, C=0.334
The Genome Aggregation Database East Asian Sub 1564 G=0.522 T=0.000, C=0.478
The Genome Aggregation Database Other Sub 972 G=0.65 T=0.00, C=0.35
The Genome Aggregation Database American Sub 836 G=0.64 T=0.00, C=0.36
The Genome Aggregation Database Ashkenazi Jewish Sub 302 G=0.68 T=0.00, C=0.32
GO Exome Sequencing Project Global Study-wide 13006 G=0.6376 C=0.3624
GO Exome Sequencing Project European American Sub 8600 G=0.625 C=0.375
GO Exome Sequencing Project African American Sub 4406 G=0.662 C=0.338
1000Genomes Global Study-wide 5008 G=0.604 C=0.396
1000Genomes African Sub 1322 G=0.670 C=0.330
1000Genomes East Asian Sub 1008 G=0.485 C=0.515
1000Genomes Europe Sub 1006 G=0.617 C=0.383
1000Genomes South Asian Sub 978 G=0.62 C=0.38
1000Genomes American Sub 694 G=0.61 C=0.39
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.591 C=0.409
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.613 C=0.387
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= A C T Note
GRCh38.p7 chr 8 NC_000008.11:...

NC_000008.11:g.11853379G=

NC_000008.11:...

NC_000008.11:g.11853379G>A

NC_000008.11:...

NC_000008.11:g.11853379G>C

NC_000008.11:...

NC_000008.11:g.11853379G>T

GRCh37.p13 chr 8 NC_000008.10:...

NC_000008.10:g.11710888G=

NC_000008.10:...

NC_000008.10:g.11710888G>A

NC_000008.10:...

NC_000008.10:g.11710888G>C

NC_000008.10:...

NC_000008.10:g.11710888G>T

CTSB RefSeqGene NG_009217.1:g...

NG_009217.1:g.19759C=

NG_009217.1:g...

NG_009217.1:g.19759C>T

NG_009217.1:g...

NG_009217.1:g.19759C>G

NG_009217.1:g...

NG_009217.1:g.19759C>A

CTSB transcript variant 1 NM_001908.4:c...

NM_001908.4:c.76C=

NM_001908.4:c...

NM_001908.4:c.76C>T

NM_001908.4:c...

NM_001908.4:c.76C>G

NM_001908.4:c...

NM_001908.4:c.76C>A

CTSB transcript variant 1 NM_001908.3:c...

NM_001908.3:c.76C=

NM_001908.3:c...

NM_001908.3:c.76C>T

NM_001908.3:c...

NM_001908.3:c.76C>G

NM_001908.3:c...

NM_001908.3:c.76C>A

CTSB transcript variant 2 NM_147780.3:c...

NM_147780.3:c.76C=

NM_147780.3:c...

NM_147780.3:c.76C>T

NM_147780.3:c...

NM_147780.3:c.76C>G

NM_147780.3:c...

NM_147780.3:c.76C>A

CTSB transcript variant 2 NM_147780.2:c...

NM_147780.2:c.76C=

NM_147780.2:c...

NM_147780.2:c.76C>T

NM_147780.2:c...

NM_147780.2:c.76C>G

NM_147780.2:c...

NM_147780.2:c.76C>A

CTSB transcript variant 3 NM_147781.3:c...

NM_147781.3:c.76C=

NM_147781.3:c...

NM_147781.3:c.76C>T

NM_147781.3:c...

NM_147781.3:c.76C>G

NM_147781.3:c...

NM_147781.3:c.76C>A

CTSB transcript variant 3 NM_147781.2:c...

NM_147781.2:c.76C=

NM_147781.2:c...

NM_147781.2:c.76C>T

NM_147781.2:c...

NM_147781.2:c.76C>G

NM_147781.2:c...

NM_147781.2:c.76C>A

CTSB transcript variant 4 NM_147782.3:c...

NM_147782.3:c.76C=

NM_147782.3:c...

NM_147782.3:c.76C>T

NM_147782.3:c...

NM_147782.3:c.76C>G

NM_147782.3:c...

NM_147782.3:c.76C>A

CTSB transcript variant 4 NM_147782.2:c...

NM_147782.2:c.76C=

NM_147782.2:c...

NM_147782.2:c.76C>T

NM_147782.2:c...

NM_147782.2:c.76C>G

NM_147782.2:c...

NM_147782.2:c.76C>A

CTSB transcript variant 5 NM_147783.3:c...

NM_147783.3:c.76C=

NM_147783.3:c...

NM_147783.3:c.76C>T

NM_147783.3:c...

NM_147783.3:c.76C>G

NM_147783.3:c...

NM_147783.3:c.76C>A

CTSB transcript variant 5 NM_147783.2:c...

NM_147783.2:c.76C=

NM_147783.2:c...

NM_147783.2:c.76C>T

NM_147783.2:c...

NM_147783.2:c.76C>G

NM_147783.2:c...

NM_147783.2:c.76C>A

CTSB transcript variant 6 NM_001317237....

NM_001317237.1:c.-178C=

NM_001317237....

NM_001317237.1:c.-178C>T

NM_001317237....

NM_001317237.1:c.-178C>G

NM_001317237....

NM_001317237.1:c.-178C>A

CTSB transcript variant X7 XM_006716245....

XM_006716245.2:c.76C=

XM_006716245....

XM_006716245.2:c.76C>T

XM_006716245....

XM_006716245.2:c.76C>G

XM_006716245....

XM_006716245.2:c.76C>A

CTSB transcript variant X4 XM_006716244....

XM_006716244.2:c.76C=

XM_006716244....

XM_006716244.2:c.76C>T

XM_006716244....

XM_006716244.2:c.76C>G

XM_006716244....

XM_006716244.2:c.76C>A

CTSB transcript variant X3 XM_011543812....

XM_011543812.2:c.76C=

XM_011543812....

XM_011543812.2:c.76C>T

XM_011543812....

XM_011543812.2:c.76C>G

XM_011543812....

XM_011543812.2:c.76C>A

CTSB transcript variant X5 XM_017013099....

XM_017013099.1:c.76C=

XM_017013099....

XM_017013099.1:c.76C>T

XM_017013099....

XM_017013099.1:c.76C>G

XM_017013099....

XM_017013099.1:c.76C>A

CTSB transcript variant X2 XM_017013098....

XM_017013098.1:c.76C=

XM_017013098....

XM_017013098.1:c.76C>T

XM_017013098....

XM_017013098.1:c.76C>G

XM_017013098....

XM_017013098.1:c.76C>A

CTSB transcript variant X1 XM_017013097....

XM_017013097.1:c.76C=

XM_017013097....

XM_017013097.1:c.76C>T

XM_017013097....

XM_017013097.1:c.76C>G

XM_017013097....

XM_017013097.1:c.76C>A

CTSB transcript variant X6 XM_017013100....

XM_017013100.1:c.76C=

XM_017013100....

XM_017013100.1:c.76C>T

XM_017013100....

XM_017013100.1:c.76C>G

XM_017013100....

XM_017013100.1:c.76C>A

CTSB transcript variant X8 XM_017013101....

XM_017013101.1:c.30C=

XM_017013101....

XM_017013101.1:c.30C>T

XM_017013101....

XM_017013101.1:c.30C>G

XM_017013101....

XM_017013101.1:c.30C>A

cathepsin B isoform 1 preproprotein NP_001899.1:p...

NP_001899.1:p.Leu26=

NP_001899.1:p...

NP_001899.1:p.Leu26=

NP_001899.1:p...

NP_001899.1:p.Leu26Val

NP_001899.1:p...

NP_001899.1:p.Leu26Met

cathepsin B isoform 1 preproprotein NP_680090.1:p...

NP_680090.1:p.Leu26=

NP_680090.1:p...

NP_680090.1:p.Leu26=

NP_680090.1:p...

NP_680090.1:p.Leu26Val

NP_680090.1:p...

NP_680090.1:p.Leu26Met

cathepsin B isoform 1 preproprotein NP_680091.1:p...

NP_680091.1:p.Leu26=

NP_680091.1:p...

NP_680091.1:p.Leu26=

NP_680091.1:p...

NP_680091.1:p.Leu26Val

NP_680091.1:p...

NP_680091.1:p.Leu26Met

cathepsin B isoform 1 preproprotein NP_680092.1:p...

NP_680092.1:p.Leu26=

NP_680092.1:p...

NP_680092.1:p.Leu26=

NP_680092.1:p...

NP_680092.1:p.Leu26Val

NP_680092.1:p...

NP_680092.1:p.Leu26Met

cathepsin B isoform 1 preproprotein NP_680093.1:p...

NP_680093.1:p.Leu26=

NP_680093.1:p...

NP_680093.1:p.Leu26=

NP_680093.1:p...

NP_680093.1:p.Leu26Val

NP_680093.1:p...

NP_680093.1:p.Leu26Met

cathepsin B isoform X1 XP_006716308....

XP_006716308.1:p.Leu26=

XP_006716308....

XP_006716308.1:p.Leu26=

XP_006716308....

XP_006716308.1:p.Leu26Val

XP_006716308....

XP_006716308.1:p.Leu26Met

cathepsin B isoform X1 XP_006716307....

XP_006716307.1:p.Leu26=

XP_006716307....

XP_006716307.1:p.Leu26=

XP_006716307....

XP_006716307.1:p.Leu26Val

XP_006716307....

XP_006716307.1:p.Leu26Met

cathepsin B isoform X1 XP_011542114....

XP_011542114.1:p.Leu26=

XP_011542114....

XP_011542114.1:p.Leu26=

XP_011542114....

XP_011542114.1:p.Leu26Val

XP_011542114....

XP_011542114.1:p.Leu26Met

cathepsin B isoform X1 XP_016868588....

XP_016868588.1:p.Leu26=

XP_016868588....

XP_016868588.1:p.Leu26=

XP_016868588....

XP_016868588.1:p.Leu26Val

XP_016868588....

XP_016868588.1:p.Leu26Met

cathepsin B isoform X1 XP_016868587....

XP_016868587.1:p.Leu26=

XP_016868587....

XP_016868587.1:p.Leu26=

XP_016868587....

XP_016868587.1:p.Leu26Val

XP_016868587....

XP_016868587.1:p.Leu26Met

cathepsin B isoform X1 XP_016868586....

XP_016868586.1:p.Leu26=

XP_016868586....

XP_016868586.1:p.Leu26=

XP_016868586....

XP_016868586.1:p.Leu26Val

XP_016868586....

XP_016868586.1:p.Leu26Met

cathepsin B isoform X1 XP_016868589....

XP_016868589.1:p.Leu26=

XP_016868589....

XP_016868589.1:p.Leu26=

XP_016868589....

XP_016868589.1:p.Leu26Val

XP_016868589....

XP_016868589.1:p.Leu26Met

cathepsin B isoform X2 XP_016868590....

XP_016868590.1:p.Pro10=

XP_016868590....

XP_016868590.1:p.Pro10=

XP_016868590....

XP_016868590.1:p.Pro10=

XP_016868590....

XP_016868590.1:p.Pro10=

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#.

7 Frequency, 98 SubSNP submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss14608 Sep 19, 2000 (52)
2 WIAF-CSNP ss20183 Dec 09, 1999 (85)
3 TSC-CSHL ss1457603 Oct 13, 2000 (123)
4 LEE ss1542903 Oct 05, 2000 (105)
5 YUSUKE ss3207978 Sep 28, 2001 (105)
6 LEE ss4429328 May 29, 2002 (108)
7 SC_JCM ss5682552 Feb 20, 2003 (123)
8 CGAP-GAI ss16247622 Feb 27, 2004 (123)
9 PERLEGEN ss23967647 Sep 20, 2004 (123)
10 MGC_GENOME_DIFF ss28509721 Sep 24, 2004 (126)
11 ABI ss44866062 Mar 10, 2006 (126)
12 PERLEGEN ss69039963 May 16, 2007 (127)
13 AFFY ss74814865 Aug 16, 2007 (128)
14 HGSV ss77774055 Dec 07, 2007 (129)
15 BCMHGSC_JDW ss93833150 Mar 25, 2008 (129)
16 BGI ss104502525 Dec 01, 2009 (131)
17 1000GENOMES ss114959578 Jan 25, 2009 (130)
18 ILLUMINA-UK ss115847009 Feb 14, 2009 (130)
19 ENSEMBL ss143253848 Dec 01, 2009 (131)
20 GMI ss155999189 Dec 01, 2009 (131)
21 SEATTLESEQ ss159716440 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss162139662 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss163928398 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss166223116 Jul 04, 2010 (132)
25 ILLUMINA ss169050533 Jul 04, 2010 (132)
26 BUSHMAN ss198774860 Jul 04, 2010 (132)
27 1000GENOMES ss223536028 Jul 14, 2010 (132)
28 1000GENOMES ss234315276 Jul 15, 2010 (132)
29 1000GENOMES ss241197903 Jul 15, 2010 (132)
30 ILLUMINA ss244276102 Jul 04, 2010 (132)
31 BL ss254095635 May 09, 2011 (134)
32 GMI ss279685099 May 04, 2012 (137)
33 GMI ss285789542 Apr 25, 2013 (138)
34 PJP ss294214426 May 09, 2011 (134)
35 NHLBI-ESP ss342253029 May 09, 2011 (134)
36 ILLUMINA ss484091441 May 04, 2012 (137)
37 ILLUMINA ss485525631 May 04, 2012 (137)
38 1000GENOMES ss490959911 May 04, 2012 (137)
39 EXOME_CHIP ss491410221 May 04, 2012 (137)
40 CLINSEQ_SNP ss491920902 May 04, 2012 (137)
41 ILLUMINA ss532743062 Sep 08, 2015 (146)
42 TISHKOFF ss560542490 Apr 25, 2013 (138)
43 SSMP ss654972099 Apr 25, 2013 (138)
44 ILLUMINA ss779525181 Sep 08, 2015 (146)
45 ILLUMINA ss780867399 Sep 08, 2015 (146)
46 ILLUMINA ss782490739 Sep 08, 2015 (146)
47 ILLUMINA ss783552312 Sep 08, 2015 (146)
48 ILLUMINA ss834995692 Sep 08, 2015 (146)
49 JMKIDD_LAB ss974467196 Aug 21, 2014 (142)
50 EVA-GONL ss985182645 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1067495507 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1075266972 Aug 21, 2014 (142)
53 1000GENOMES ss1328578679 Aug 21, 2014 (142)
54 DDI ss1431409815 Apr 01, 2015 (144)
55 EVA_GENOME_DK ss1582553725 Apr 01, 2015 (144)
56 EVA_FINRISK ss1584057045 Apr 01, 2015 (144)
57 EVA_DECODE ss1594770134 Apr 01, 2015 (144)
58 EVA_UK10K_ALSPAC ss1619961165 Apr 01, 2015 (144)
59 EVA_UK10K_TWINSUK ss1662955198 Apr 01, 2015 (144)
60 EVA_EXAC ss1689090458 Apr 01, 2015 (144)
61 EVA_EXAC ss1689090459 Apr 01, 2015 (144)
62 EVA_EXAC ss1689090460 Apr 01, 2015 (144)
63 EVA_MGP ss1711192261 Apr 01, 2015 (144)
64 ILLUMINA ss1752708270 Sep 08, 2015 (146)
65 HAMMER_LAB ss1805393238 Sep 08, 2015 (146)
66 ILLUMINA ss1917825774 Feb 12, 2016 (147)
67 WEILL_CORNELL_DGM ss1928465737 Feb 12, 2016 (147)
68 ILLUMINA ss1946229635 Feb 12, 2016 (147)
69 ILLUMINA ss1959086796 Feb 12, 2016 (147)
70 GENOMED ss1970905450 Jul 19, 2016 (147)
71 JJLAB ss2024926689 Sep 14, 2016 (149)
72 USC_VALOUEV ss2153151137 Dec 20, 2016 (150)
73 HUMAN_LONGEVITY ss2300648622 Dec 20, 2016 (150)
74 TOPMED ss2470274380 Dec 20, 2016 (150)
75 SYSTEMSBIOZJU ss2626949543 Nov 08, 2017 (151)
76 ILLUMINA ss2634708739 Nov 08, 2017 (151)
77 GRF ss2708904732 Nov 08, 2017 (151)
78 ILLUMINA ss2711130071 Nov 08, 2017 (151)
79 GNOMAD ss2736989841 Nov 08, 2017 (151)
80 GNOMAD ss2747996423 Nov 08, 2017 (151)
81 GNOMAD ss2863172426 Nov 08, 2017 (151)
82 AFFY ss2985431171 Nov 08, 2017 (151)
83 AFFY ss2986073219 Nov 08, 2017 (151)
84 SWEGEN ss3002657133 Nov 08, 2017 (151)
85 ILLUMINA ss3022818217 Nov 08, 2017 (151)
86 EVA_SAMSUNG_MC ss3023063874 Nov 08, 2017 (151)
87 BIOINF_KMB_FNS_UNIBA ss3026253500 Nov 08, 2017 (151)
88 CSHL ss3348035654 Nov 08, 2017 (151)
89 TOPMED ss3553748355 Nov 08, 2017 (151)
90 TOPMED ss3553748356 Nov 08, 2017 (151)
91 TOPMED ss3553748357 Nov 08, 2017 (151)
92 ILLUMINA ss3629994809 Jul 20, 2018 (151)
93 ILLUMINA ss3629994810 Jul 20, 2018 (151)
94 ILLUMINA ss3632609907 Jul 20, 2018 (151)
95 ILLUMINA ss3635158183 Jul 20, 2018 (151)
96 ILLUMINA ss3638743317 Jul 20, 2018 (151)
97 ILLUMINA ss3640865473 Jul 20, 2018 (151)
98 ILLUMINA ss3644962804 Jul 20, 2018 (151)
99 1000Genomes NC_000008.10 - 11710888 Jul 20, 2018 (151)
100 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 11710888 Jul 20, 2018 (151)
101 The Genome Aggregation Database NC_000008.10 - 11710888 Jul 20, 2018 (151)
102 The Genome Aggregation Database NC_000008.10 - 11710888 Jul 20, 2018 (151)
103 GO Exome Sequencing Project NC_000008.10 - 11710888 Jul 20, 2018 (151)
104 Trans-Omics for Precision Medicine NC_000008.11 - 11853379 Jul 20, 2018 (151)
105 UK 10K study - Twins NC_000008.10 - 11710888 Jul 20, 2018 (151)
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).

Associated ID History Updated (Build)
rs17572 Sep 19, 2000 (85)
rs1059863 May 29, 2002 (105)
rs1122181 Oct 08, 2004 (123)
rs3200720 Oct 08, 2002 (108)
rs4292649 Oct 08, 2004 (123)
rs17855419 Mar 10, 2006 (126)
rs52795645 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss77774055, ss93833150, ss114959578, ss115847009, ss162139662, ss163928398, ss166223116, ss198774860, ss254095635, ss279685099, ss285789542, ss294214426, ss485525631, ss491920902, ss1594770134 NC_000008.9:11748296:G= NC_000008.11:11853378:G= (self)
40665126, 22611492, 203800180, 6004576, 805269, 22611492, ss223536028, ss234315276, ss241197903, ss342253029, ss484091441, ss490959911, ss491410221, ss532743062, ss560542490, ss654972099, ss779525181, ss780867399, ss782490739, ss783552312, ss834995692, ss974467196, ss985182645, ss1067495507, ss1075266972, ss1328578679, ss1431409815, ss1582553725, ss1584057045, ss1619961165, ss1662955198, ss1689090458, ss1689090459, ss1689090460, ss1711192261, ss1752708270, ss1805393238, ss1917825774, ss1928465737, ss1946229635, ss1959086796, ss1970905450, ss2024926689, ss2153151137, ss2470274380, ss2626949543, ss2634708739, ss2708904732, ss2711130071, ss2736989841, ss2747996423, ss2863172426, ss2985431171, ss2986073219, ss3002657133, ss3022818217, ss3023063874, ss3348035654, ss3629994809, ss3629994810, ss3632609907, ss3635158183, ss3638743317, ss3640865473, ss3644962804 NC_000008.10:11710887:G= NC_000008.11:11853378:G= (self)
383063417, ss2300648622, ss3026253500, ss3553748355, ss3553748356, ss3553748357 NC_000008.11:11853378:G= NC_000008.11:11853378:G= (self)
ss14608, ss20183, ss1457603, ss1542903, ss3207978, ss4429328, ss5682552, ss16247622, ss23967647, ss28509721, ss44866062, ss69039963, ss74814865, ss104502525, ss143253848, ss155999189, ss159716440, ss169050533, ss244276102 NT_077531.4:4186238:G= NC_000008.11:11853378:G= (self)
6004576, ss1689090459, ss2736989841 NC_000008.10:11710887:G>A NC_000008.11:11853378:G>A (self)
ss2300648622, ss3553748355 NC_000008.11:11853378:G>A NC_000008.11:11853378:G>A (self)
ss77774055, ss93833150, ss114959578, ss115847009, ss162139662, ss163928398, ss166223116, ss198774860, ss254095635, ss279685099, ss285789542, ss294214426, ss485525631, ss491920902, ss1594770134 NC_000008.9:11748296:G>C NC_000008.11:11853378:G>C (self)
40665126, 22611492, 203800180, 6004576, 805269, 22611492, ss223536028, ss234315276, ss241197903, ss342253029, ss484091441, ss490959911, ss491410221, ss532743062, ss560542490, ss654972099, ss779525181, ss780867399, ss782490739, ss783552312, ss834995692, ss974467196, ss985182645, ss1067495507, ss1075266972, ss1328578679, ss1431409815, ss1582553725, ss1584057045, ss1619961165, ss1662955198, ss1689090458, ss1711192261, ss1752708270, ss1805393238, ss1917825774, ss1928465737, ss1946229635, ss1959086796, ss1970905450, ss2024926689, ss2153151137, ss2470274380, ss2626949543, ss2634708739, ss2708904732, ss2711130071, ss2736989841, ss2747996423, ss2863172426, ss2985431171, ss2986073219, ss3002657133, ss3022818217, ss3023063874, ss3348035654, ss3629994809, ss3629994810, ss3632609907, ss3635158183, ss3638743317, ss3640865473, ss3644962804 NC_000008.10:11710887:G>C NC_000008.11:11853378:G>C (self)
383063417, ss2300648622, ss3026253500, ss3553748356 NC_000008.11:11853378:G>C NC_000008.11:11853378:G>C (self)
ss14608, ss20183, ss1457603, ss1542903, ss3207978, ss4429328, ss5682552, ss16247622, ss23967647, ss28509721, ss44866062, ss69039963, ss74814865, ss104502525, ss143253848, ss155999189, ss159716440, ss169050533, ss244276102 NT_077531.4:4186238:G>C NC_000008.11:11853378:G>C (self)
203800180, 6004576, ss1689090460, ss2736989841, ss2747996423, ss2863172426 NC_000008.10:11710887:G>T NC_000008.11:11853378:G>T (self)
ss2300648622, ss3553748357 NC_000008.11:11853378:G>T NC_000008.11:11853378:G>T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs12338
PMID Title Author Year Journal
22851129 Cathepsin B SNPs elevate the pathological development of oral cancer and raise the susceptibility to carcinogen-mediated oral cancer. Chen MK et al. 2012 Human genetics

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: 0.1.4.post833+d3ba21e