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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.

rs1441551399

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:144623209 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TPK1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 7 NC_000007.14:g.144623209C>T
GRCh37.p13 chr 7 NC_000007.13:g.144320302C>T
TPK1 RefSeqGene NG_032112.2:g.217845G>A
GRCh38.p14 chr 7 novel patch HSCHR7_3_CTG4_4 NW_018654715.1:g.672940C>T
Gene: TPK1, thiamin pyrophosphokinase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TPK1 transcript variant 11 NM_001350887.1:c.-8= N/A 5 Prime UTR Variant
TPK1 transcript variant 10 NM_001350886.1:c.-8= N/A 5 Prime UTR Variant
TPK1 transcript variant 12 NM_001350889.1:c.-8= N/A 5 Prime UTR Variant
TPK1 transcript variant 15 NM_001350895.1:c.-163= N/A 5 Prime UTR Variant
TPK1 transcript variant 14 NM_001350894.1:c.-8= N/A 5 Prime UTR Variant
TPK1 transcript variant 13 NM_001350893.1:c.-8= N/A 5 Prime UTR Variant
TPK1 transcript variant 9 NM_001350885.1:c.-8= N/A 5 Prime UTR Variant
TPK1 transcript variant 7 NM_001350883.1:c.296G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform d NP_001337812.1:p.Cys99Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant 5 NM_001350881.1:c.311G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform c NP_001337810.1:p.Cys104Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant 6 NM_001350882.1:c.296G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform d NP_001337811.1:p.Cys99Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant 3 NM_001350879.1:c.311G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform a NP_001337808.1:p.Cys104Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant 4 NM_001350880.1:c.311G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform b NP_001337809.1:p.Cys104Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant 1 NM_022445.4:c.311G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform a NP_071890.2:p.Cys104Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant 8 NM_001350884.2:c.296G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform d NP_001337813.1:p.Cys99Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant 2 NM_001042482.2:c.311G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform b NP_001035947.1:p.Cys104Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant 16 NR_146934.1:n.355G>A N/A Non Coding Transcript Variant
TPK1 transcript variant 17 NR_146935.1:n.494G>A N/A Non Coding Transcript Variant
TPK1 transcript variant 18 NR_146936.2:n.538G>A N/A Non Coding Transcript Variant
TPK1 transcript variant X11 XM_011516048.1:c.-8= N/A 5 Prime UTR Variant
TPK1 transcript variant X9 XM_047420197.1:c.-8= N/A 5 Prime UTR Variant
TPK1 transcript variant X7 XM_047420198.1:c.-8= N/A 5 Prime UTR Variant
TPK1 transcript variant X8 XM_047420199.1:c.-8= N/A 5 Prime UTR Variant
TPK1 transcript variant X10 XM_011516047.3:c.-8= N/A 5 Prime UTR Variant
TPK1 transcript variant X27 XM_024446717.2:c.-8= N/A 5 Prime UTR Variant
TPK1 transcript variant X17 XM_017011970.1:c.374G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X8 XP_016867459.1:p.Cys125Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X12 XM_011516031.2:c.389G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X6 XP_011514333.1:p.Cys130Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X13 XM_011516034.3:c.389G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X6 XP_011514336.1:p.Cys130Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X14 XM_011516033.3:c.389G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X6 XP_011514335.1:p.Cys130Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X15 XM_011516032.3:c.389G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X6 XP_011514334.1:p.Cys130Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X16 XM_017011969.2:c.389G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X7 XP_016867458.1:p.Cys130Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X18 XM_011516037.3:c.374G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X8 XP_011514339.1:p.Cys125Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X19 XM_017011971.2:c.374G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X8 XP_016867460.1:p.Cys125Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X20 XM_017011972.2:c.389G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X9 XP_016867461.1:p.Cys130Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X1 XM_005249970.2:c.311G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X1 XP_005250027.1:p.Cys104Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X2 XM_047420192.1:c.311G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X1 XP_047276148.1:p.Cys104Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X21 XM_011516039.3:c.311G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X10 XP_011514341.1:p.Cys104Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X22 XM_011516040.3:c.389G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X11 XP_011514342.1:p.Cys130Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X23 XM_011516043.2:c.389G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X12 XP_011514345.1:p.Cys130Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X3 XM_047420194.1:c.311G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X2 XP_047276150.1:p.Cys104Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X4 XM_047420195.1:c.311G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X2 XP_047276151.1:p.Cys104Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X5 XM_047420196.1:c.296G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X3 XP_047276152.1:p.Cys99Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X25 XM_017011980.3:c.71G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X4 XP_016867469.1:p.Cys24Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X6 XM_017011981.3:c.71G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X4 XP_016867470.1:p.Cys24Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X26 XM_011516046.2:c.389G>A C [TGC] > Y [TAC] Coding Sequence Variant
thiamine pyrophosphokinase 1 isoform X13 XP_011514348.1:p.Cys130Tyr C (Cys) > Y (Tyr) Missense Variant
TPK1 transcript variant X24 XR_001744630.2:n.492G>A N/A Non Coding 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 C= T
GRCh38.p14 chr 7 NC_000007.14:g.144623209= NC_000007.14:g.144623209C>T
GRCh37.p13 chr 7 NC_000007.13:g.144320302= NC_000007.13:g.144320302C>T
TPK1 RefSeqGene NG_032112.2:g.217845= NG_032112.2:g.217845G>A
TPK1 transcript variant 1 NM_022445.4:c.311= NM_022445.4:c.311G>A
TPK1 transcript variant 1 NM_022445.3:c.311= NM_022445.3:c.311G>A
TPK1 transcript variant 18 NR_146936.2:n.538= NR_146936.2:n.538G>A
TPK1 transcript variant 18 NR_146936.1:n.562= NR_146936.1:n.562G>A
TPK1 transcript variant 8 NM_001350884.2:c.296= NM_001350884.2:c.296G>A
TPK1 transcript variant 8 NM_001350884.1:c.296= NM_001350884.1:c.296G>A
TPK1 transcript variant 2 NM_001042482.2:c.311= NM_001042482.2:c.311G>A
TPK1 transcript variant 2 NM_001042482.1:c.311= NM_001042482.1:c.311G>A
TPK1 transcript variant 3 NM_001350879.1:c.311= NM_001350879.1:c.311G>A
TPK1 transcript variant 15 NM_001350895.1:c.-163= NM_001350895.1:c.-163G>A
TPK1 transcript variant 6 NM_001350882.1:c.296= NM_001350882.1:c.296G>A
TPK1 transcript variant 5 NM_001350881.1:c.311= NM_001350881.1:c.311G>A
TPK1 transcript variant 7 NM_001350883.1:c.296= NM_001350883.1:c.296G>A
TPK1 transcript variant 10 NM_001350886.1:c.-8= NM_001350886.1:c.-8G>A
TPK1 transcript variant 4 NM_001350880.1:c.311= NM_001350880.1:c.311G>A
TPK1 transcript variant 17 NR_146935.1:n.494= NR_146935.1:n.494G>A
TPK1 transcript variant 13 NM_001350893.1:c.-8= NM_001350893.1:c.-8G>A
TPK1 transcript variant 14 NM_001350894.1:c.-8= NM_001350894.1:c.-8G>A
TPK1 transcript variant 9 NM_001350885.1:c.-8= NM_001350885.1:c.-8G>A
TPK1 transcript variant 11 NM_001350887.1:c.-8= NM_001350887.1:c.-8G>A
TPK1 transcript variant 12 NM_001350889.1:c.-8= NM_001350889.1:c.-8G>A
TPK1 transcript variant 16 NR_146934.1:n.355= NR_146934.1:n.355G>A
GRCh38.p14 chr 7 novel patch HSCHR7_3_CTG4_4 NW_018654715.1:g.672940= NW_018654715.1:g.672940C>T
TPK1 transcript variant X22 XM_011516040.3:c.389= XM_011516040.3:c.389G>A
TPK1 transcript variant X15 XM_011516040.2:c.389= XM_011516040.2:c.389G>A
TPK1 transcript variant X13 XM_011516040.1:c.389= XM_011516040.1:c.389G>A
TPK1 transcript variant X10 XM_011516047.3:c.-8= XM_011516047.3:c.-8G>A
TPK1 transcript variant X24 XM_011516047.2:c.-8= XM_011516047.2:c.-8G>A
TPK1 transcript variant X22 XM_011516047.1:c.-8= XM_011516047.1:c.-8G>A
TPK1 transcript variant X15 XM_011516032.3:c.389= XM_011516032.3:c.389G>A
TPK1 transcript variant X3 XM_011516032.2:c.389= XM_011516032.2:c.389G>A
TPK1 transcript variant X2 XM_011516032.1:c.389= XM_011516032.1:c.389G>A
TPK1 transcript variant X13 XM_011516034.3:c.389= XM_011516034.3:c.389G>A
TPK1 transcript variant X4 XM_011516034.2:c.389= XM_011516034.2:c.389G>A
TPK1 transcript variant X4 XM_011516034.1:c.389= XM_011516034.1:c.389G>A
TPK1 transcript variant X14 XM_011516033.3:c.389= XM_011516033.3:c.389G>A
TPK1 transcript variant X2 XM_011516033.2:c.389= XM_011516033.2:c.389G>A
TPK1 transcript variant X3 XM_011516033.1:c.389= XM_011516033.1:c.389G>A
TPK1 transcript variant X18 XM_011516037.3:c.374= XM_011516037.3:c.374G>A
TPK1 transcript variant X8 XM_011516037.2:c.374= XM_011516037.2:c.374G>A
TPK1 transcript variant X8 XM_011516037.1:c.374= XM_011516037.1:c.374G>A
TPK1 transcript variant X21 XM_011516039.3:c.311= XM_011516039.3:c.311G>A
TPK1 transcript variant X13 XM_011516039.2:c.311= XM_011516039.2:c.311G>A
TPK1 transcript variant X12 XM_011516039.1:c.311= XM_011516039.1:c.311G>A
TPK1 transcript variant X6 XM_017011981.3:c.71= XM_017011981.3:c.71G>A
TPK1 transcript variant X20 XM_017011981.2:c.71= XM_017011981.2:c.71G>A
TPK1 transcript variant X27 XM_017011981.1:c.71= XM_017011981.1:c.71G>A
TPK1 transcript variant X25 XM_017011980.3:c.71= XM_017011980.3:c.71G>A
TPK1 transcript variant X19 XM_017011980.2:c.71= XM_017011980.2:c.71G>A
TPK1 transcript variant X26 XM_017011980.1:c.71= XM_017011980.1:c.71G>A
TPK1 transcript variant X12 XM_011516031.2:c.389= XM_011516031.2:c.389G>A
TPK1 transcript variant X1 XM_011516031.1:c.389= XM_011516031.1:c.389G>A
TPK1 transcript variant X1 XM_005249970.2:c.311= XM_005249970.2:c.311G>A
TPK1 transcript variant X11 XM_005249970.1:c.311= XM_005249970.1:c.311G>A
TPK1 transcript variant X19 XM_017011971.2:c.374= XM_017011971.2:c.374G>A
TPK1 transcript variant X9 XM_017011971.1:c.374= XM_017011971.1:c.374G>A
TPK1 transcript variant X27 XM_024446717.2:c.-8= XM_024446717.2:c.-8G>A
TPK1 transcript variant X26 XM_024446717.1:c.-8= XM_024446717.1:c.-8G>A
TPK1 transcript variant X23 XM_011516043.2:c.389= XM_011516043.2:c.389G>A
TPK1 transcript variant X16 XM_011516043.1:c.389= XM_011516043.1:c.389G>A
TPK1 transcript variant X16 XM_017011969.2:c.389= XM_017011969.2:c.389G>A
TPK1 transcript variant X5 XM_017011969.1:c.389= XM_017011969.1:c.389G>A
TPK1 transcript variant X20 XM_017011972.2:c.389= XM_017011972.2:c.389G>A
TPK1 transcript variant X10 XM_017011972.1:c.389= XM_017011972.1:c.389G>A
TPK1 transcript variant X24 XR_001744630.2:n.492= XR_001744630.2:n.492G>A
TPK1 transcript variant X17 XR_001744630.1:n.493= XR_001744630.1:n.493G>A
TPK1 transcript variant X26 XM_011516046.2:c.389= XM_011516046.2:c.389G>A
TPK1 transcript variant X21 XM_011516046.1:c.389= XM_011516046.1:c.389G>A
TPK1 transcript variant X7 XM_047420198.1:c.-8= XM_047420198.1:c.-8G>A
TPK1 transcript variant X8 XM_047420199.1:c.-8= XM_047420199.1:c.-8G>A
TPK1 transcript variant X2 XM_047420192.1:c.311= XM_047420192.1:c.311G>A
TPK1 transcript variant X17 XM_017011970.1:c.374= XM_017011970.1:c.374G>A
TPK1 transcript variant X4 XM_047420195.1:c.311= XM_047420195.1:c.311G>A
TPK1 transcript variant X9 XM_047420197.1:c.-8= XM_047420197.1:c.-8G>A
TPK1 transcript variant X3 XM_047420194.1:c.311= XM_047420194.1:c.311G>A
TPK1 transcript variant X5 XM_047420196.1:c.296= XM_047420196.1:c.296G>A
TPK1 transcript variant X11 XM_011516048.1:c.-8= XM_011516048.1:c.-8G>A
thiamine pyrophosphokinase 1 isoform a NP_071890.2:p.Cys104= NP_071890.2:p.Cys104Tyr
thiamine pyrophosphokinase 1 isoform d NP_001337813.1:p.Cys99= NP_001337813.1:p.Cys99Tyr
thiamine pyrophosphokinase 1 isoform b NP_001035947.1:p.Cys104= NP_001035947.1:p.Cys104Tyr
thiamine pyrophosphokinase 1 isoform a NP_001337808.1:p.Cys104= NP_001337808.1:p.Cys104Tyr
thiamine pyrophosphokinase 1 isoform d NP_001337811.1:p.Cys99= NP_001337811.1:p.Cys99Tyr
thiamine pyrophosphokinase 1 isoform c NP_001337810.1:p.Cys104= NP_001337810.1:p.Cys104Tyr
thiamine pyrophosphokinase 1 isoform d NP_001337812.1:p.Cys99= NP_001337812.1:p.Cys99Tyr
thiamine pyrophosphokinase 1 isoform b NP_001337809.1:p.Cys104= NP_001337809.1:p.Cys104Tyr
thiamine pyrophosphokinase 1 isoform X11 XP_011514342.1:p.Cys130= XP_011514342.1:p.Cys130Tyr
thiamine pyrophosphokinase 1 isoform X6 XP_011514334.1:p.Cys130= XP_011514334.1:p.Cys130Tyr
thiamine pyrophosphokinase 1 isoform X6 XP_011514336.1:p.Cys130= XP_011514336.1:p.Cys130Tyr
thiamine pyrophosphokinase 1 isoform X6 XP_011514335.1:p.Cys130= XP_011514335.1:p.Cys130Tyr
thiamine pyrophosphokinase 1 isoform X8 XP_011514339.1:p.Cys125= XP_011514339.1:p.Cys125Tyr
thiamine pyrophosphokinase 1 isoform X10 XP_011514341.1:p.Cys104= XP_011514341.1:p.Cys104Tyr
thiamine pyrophosphokinase 1 isoform X4 XP_016867470.1:p.Cys24= XP_016867470.1:p.Cys24Tyr
thiamine pyrophosphokinase 1 isoform X4 XP_016867469.1:p.Cys24= XP_016867469.1:p.Cys24Tyr
thiamine pyrophosphokinase 1 isoform X6 XP_011514333.1:p.Cys130= XP_011514333.1:p.Cys130Tyr
thiamine pyrophosphokinase 1 isoform X1 XP_005250027.1:p.Cys104= XP_005250027.1:p.Cys104Tyr
thiamine pyrophosphokinase 1 isoform X8 XP_016867460.1:p.Cys125= XP_016867460.1:p.Cys125Tyr
thiamine pyrophosphokinase 1 isoform X12 XP_011514345.1:p.Cys130= XP_011514345.1:p.Cys130Tyr
thiamine pyrophosphokinase 1 isoform X7 XP_016867458.1:p.Cys130= XP_016867458.1:p.Cys130Tyr
thiamine pyrophosphokinase 1 isoform X9 XP_016867461.1:p.Cys130= XP_016867461.1:p.Cys130Tyr
thiamine pyrophosphokinase 1 isoform X13 XP_011514348.1:p.Cys130= XP_011514348.1:p.Cys130Tyr
thiamine pyrophosphokinase 1 isoform X1 XP_047276148.1:p.Cys104= XP_047276148.1:p.Cys104Tyr
thiamine pyrophosphokinase 1 isoform X8 XP_016867459.1:p.Cys125= XP_016867459.1:p.Cys125Tyr
thiamine pyrophosphokinase 1 isoform X2 XP_047276151.1:p.Cys104= XP_047276151.1:p.Cys104Tyr
thiamine pyrophosphokinase 1 isoform X2 XP_047276150.1:p.Cys104= XP_047276150.1:p.Cys104Tyr
thiamine pyrophosphokinase 1 isoform X3 XP_047276152.1:p.Cys99= XP_047276152.1:p.Cys99Tyr
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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 Frequency submission
No Submitter Submission ID Date (Build)
1 ALFA NC_000007.14 - 144623209 Apr 27, 2021 (155)
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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
3626238691 NC_000007.14:144623208:C:T NC_000007.14:144623208:C:T (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 rs1441551399

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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