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.
rs1485204400
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr2:101873654 (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>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000007 (1/140246, GnomAD)A=0.00000 (0/10680, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- MAP4K4 : 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 | 10680 | C=1.00000 | A=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 6962 | C=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2294 | C=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 84 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2210 | C=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 108 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 84 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 24 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 94 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 466 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
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 - Genomes | Global | Study-wide | 140246 | C=0.999993 | A=0.000007 |
| gnomAD - Genomes | European | Sub | 75942 | C=1.00000 | A=0.00000 |
| gnomAD - Genomes | African | Sub | 42032 | C=0.99998 | A=0.00002 |
| gnomAD - Genomes | American | Sub | 13662 | C=1.00000 | A=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=1.0000 | A=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3134 | C=1.0000 | A=0.0000 |
| gnomAD - Genomes | Other | Sub | 2152 | C=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Total | Global | 10680 | C=1.00000 | A=0.00000 |
| Allele Frequency Aggregator | European | Sub | 6962 | C=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2294 | C=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | Other | Sub | 466 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 108 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 94 | C=1.00 | A=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 2 | NC_000002.12:g.101873654C>A |
| GRCh37.p13 chr 2 | NC_000002.11:g.102490116C>A |
Gene: MAP4K4, mitogen-activated protein kinase kinase kinase kinase 4
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MAP4K4 transcript variant 4 | NM_001242559.2:c.2525C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 4 | NP_001229488.1:p.Ser842Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 5 | NM_001242560.2:c.2513C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 5 | NP_001229489.1:p.Ser838Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 3 | NM_145687.4:c.2444C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 3 | NP_663720.1:p.Ser815Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 1 | NM_004834.5:c.2279C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 1 | NP_004825.3:p.Ser760Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 13 | NM_001384485.1:c.2606C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 13 | NP_001371414.1:p.Ser869Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 23 | NM_001384495.1:c.2474C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 23 | NP_001371424.1:p.Ser825Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 11 | NM_001384483.1:c.2555C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 11 | NP_001371412.1:p.Ser852Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 16 | NM_001384488.1:c.2726C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 16 | NP_001371417.1:p.Ser909Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 6 | NM_001384476.1:c.2603C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 6 | NP_001371405.1:p.Ser868Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 19 | NM_001384491.1:c.2510C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 19 | NP_001371420.1:p.Ser837Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 15 | NM_001384487.1:c.2696C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 15 | NP_001371416.1:p.Ser899Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 9 | NM_001384481.1:c.2720C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 9 | NP_001371410.1:p.Ser907Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 14 | NM_001384486.1:c.2729C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 14 | NP_001371415.1:p.Ser910Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 24 | NM_001384496.1:c.2558C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 24 | NP_001371425.1:p.Ser853Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 12 | NM_001384484.1:c.2606C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 12 | NP_001371413.1:p.Ser869Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 22 | NM_001384494.1:c.2372C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 22 | NP_001371423.1:p.Ser791Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 21 | NM_001384493.1:c.2798C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 21 | NP_001371422.1:p.Ser933Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 10 | NM_001384482.1:c.2273C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 10 | NP_001371411.1:p.Ser758Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 20 | NM_001384492.1:c.2864C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 20 | NP_001371421.1:p.Ser955Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 18 | NM_001384490.1:c.2375C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 18 | NP_001371419.1:p.Ser792Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 7 | NM_001384477.1:c.2792C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 7 | NP_001371406.1:p.Ser931Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 41 | NM_001384554.1:c.2477C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 41 | NP_001371483.1:p.Ser826Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 49 | NM_001384562.1:c.2573C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 49 | NP_001371491.1:p.Ser858Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 35 | NM_001384548.1:c.2711C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 35 | NP_001371477.1:p.Ser904Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 31 | NM_001384520.1:c.2666C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 31 | NP_001371449.1:p.Ser889Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 25 | NM_001384497.1:c.2951C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 25 | NP_001371426.1:p.Ser984Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 44 | NM_001384557.1:c.2408C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 44 | NP_001371486.1:p.Ser803Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 54 | NM_001384579.1:c.2510C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 54 | NP_001371508.1:p.Ser837Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 52 | NM_001384567.1:c.2678C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 52 | NP_001371496.1:p.Ser893Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 53 | NM_001384572.1:c.2579C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 53 | NP_001371501.1:p.Ser860Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 39 | NM_001384552.1:c.2576C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 39 | NP_001371481.1:p.Ser859Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 37 | NM_001384550.1:c.2492C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 37 | NP_001371479.1:p.Ser831Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 27 | NM_001384506.1:c.2768C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 27 | NP_001371435.1:p.Ser923Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 29 | NM_001384508.1:c.2600C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 29 | NP_001371437.1:p.Ser867Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 36 | NM_001384549.1:c.2447C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 36 | NP_001371478.1:p.Ser816Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 42 | NM_001384555.1:c.2771C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 42 | NP_001371484.1:p.Ser924Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 32 | NM_001384543.1:c.2675C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 32 | NP_001371472.1:p.Ser892Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 45 | NM_001384558.1:c.2486C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 45 | NP_001371487.1:p.Ser829Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 48 | NM_001384561.1:c.2255C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 48 | NP_001371490.1:p.Ser752Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 51 | NM_001384564.1:c.2831C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 51 | NP_001371493.1:p.Ser944Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 46 | NM_001384559.1:c.2444C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 46 | NP_001371488.1:p.Ser815Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 43 | NM_001384556.1:c.2570C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 43 | NP_001371485.1:p.Ser857Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 38 | NM_001384551.1:c.2417C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 38 | NP_001371480.1:p.Ser806Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 28 | NM_001384507.1:c.2537C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 28 | NP_001371436.1:p.Ser846Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 30 | NM_001384509.1:c.2693C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 30 | NP_001371438.1:p.Ser898Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 40 | NM_001384553.1:c.2765C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 40 | NP_001371482.1:p.Ser922Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 50 | NM_001384563.1:c.2762C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 50 | NP_001371492.1:p.Ser921Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 47 | NM_001384560.1:c.2339C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 47 | NP_001371489.1:p.Ser780Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 2 | NM_145686.4:c.2627C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 2 | NP_663719.2:p.Ser876Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 8 | NM_001384478.1:c.2282C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 8 | NP_001371407.1:p.Ser761Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 55 | NM_001395002.1:c.2960C>A | S [TCC] > Y [TAC] | Coding Sequence Variant |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 55 | NP_001381931.1:p.Ser987Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| MAP4K4 transcript variant 17 | NR_169279.1:n.2901C>A | N/A | Non Coding Transcript Variant |
| MAP4K4 transcript variant 33 | NR_169280.1:n.3000C>A | N/A | Non Coding Transcript Variant |
| MAP4K4 transcript variant 34 | NR_169281.1:n.2808C>A | N/A | Non Coding Transcript Variant |
| MAP4K4 transcript variant 26 | NR_169282.1:n.2361C>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= | A |
|---|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.101873654= | NC_000002.12:g.101873654C>A |
| GRCh37.p13 chr 2 | NC_000002.11:g.102490116= | NC_000002.11:g.102490116C>A |
| MAP4K4 transcript variant 1 | NM_004834.5:c.2279= | NM_004834.5:c.2279C>A |
| MAP4K4 transcript variant 1 | NM_004834.4:c.2279= | NM_004834.4:c.2279C>A |
| MAP4K4 transcript variant 2 | NM_145686.4:c.2627= | NM_145686.4:c.2627C>A |
| MAP4K4 transcript variant 2 | NM_145686.3:c.2627= | NM_145686.3:c.2627C>A |
| MAP4K4 transcript variant 3 | NM_145687.4:c.2444= | NM_145687.4:c.2444C>A |
| MAP4K4 transcript variant 3 | NM_145687.3:c.2444= | NM_145687.3:c.2444C>A |
| MAP4K4 transcript variant 4 | NM_001242559.2:c.2525= | NM_001242559.2:c.2525C>A |
| MAP4K4 transcript variant 4 | NM_001242559.1:c.2525= | NM_001242559.1:c.2525C>A |
| MAP4K4 transcript variant 5 | NM_001242560.2:c.2513= | NM_001242560.2:c.2513C>A |
| MAP4K4 transcript variant 5 | NM_001242560.1:c.2513= | NM_001242560.1:c.2513C>A |
| MAP4K4 transcript variant 55 | NM_001395002.1:c.2960= | NM_001395002.1:c.2960C>A |
| MAP4K4 transcript variant 25 | NM_001384497.1:c.2951= | NM_001384497.1:c.2951C>A |
| MAP4K4 transcript variant 20 | NM_001384492.1:c.2864= | NM_001384492.1:c.2864C>A |
| MAP4K4 transcript variant 21 | NM_001384493.1:c.2798= | NM_001384493.1:c.2798C>A |
| MAP4K4 transcript variant 7 | NM_001384477.1:c.2792= | NM_001384477.1:c.2792C>A |
| MAP4K4 transcript variant 27 | NM_001384506.1:c.2768= | NM_001384506.1:c.2768C>A |
| MAP4K4 transcript variant 9 | NM_001384481.1:c.2720= | NM_001384481.1:c.2720C>A |
| MAP4K4 transcript variant 14 | NM_001384486.1:c.2729= | NM_001384486.1:c.2729C>A |
| MAP4K4 transcript variant 16 | NM_001384488.1:c.2726= | NM_001384488.1:c.2726C>A |
| MAP4K4 transcript variant 35 | NM_001384548.1:c.2711= | NM_001384548.1:c.2711C>A |
| MAP4K4 transcript variant 15 | NM_001384487.1:c.2696= | NM_001384487.1:c.2696C>A |
| MAP4K4 transcript variant 30 | NM_001384509.1:c.2693= | NM_001384509.1:c.2693C>A |
| MAP4K4 transcript variant 32 | NM_001384543.1:c.2675= | NM_001384543.1:c.2675C>A |
| MAP4K4 transcript variant 31 | NM_001384520.1:c.2666= | NM_001384520.1:c.2666C>A |
| MAP4K4 transcript variant 51 | NM_001384564.1:c.2831= | NM_001384564.1:c.2831C>A |
| MAP4K4 transcript variant 13 | NM_001384485.1:c.2606= | NM_001384485.1:c.2606C>A |
| MAP4K4 transcript variant 33 | NR_169280.1:n.3000= | NR_169280.1:n.3000C>A |
| MAP4K4 transcript | NM_001384544.1:c.1883= | NM_001384544.1:c.1883C>A |
| MAP4K4 transcript variant 12 | NM_001384484.1:c.2606= | NM_001384484.1:c.2606C>A |
| MAP4K4 transcript variant 6 | NM_001384476.1:c.2603= | NM_001384476.1:c.2603C>A |
| MAP4K4 transcript variant 29 | NM_001384508.1:c.2600= | NM_001384508.1:c.2600C>A |
| MAP4K4 transcript variant 24 | NM_001384496.1:c.2558= | NM_001384496.1:c.2558C>A |
| MAP4K4 transcript variant 42 | NM_001384555.1:c.2771= | NM_001384555.1:c.2771C>A |
| MAP4K4 transcript variant 40 | NM_001384553.1:c.2765= | NM_001384553.1:c.2765C>A |
| MAP4K4 transcript variant 50 | NM_001384563.1:c.2762= | NM_001384563.1:c.2762C>A |
| MAP4K4 transcript variant 11 | NM_001384483.1:c.2555= | NM_001384483.1:c.2555C>A |
| MAP4K4 transcript variant 17 | NR_169279.1:n.2901= | NR_169279.1:n.2901C>A |
| MAP4K4 transcript | NM_001384489.1:c.1784= | NM_001384489.1:c.1784C>A |
| MAP4K4 transcript variant 28 | NM_001384507.1:c.2537= | NM_001384507.1:c.2537C>A |
| MAP4K4 transcript variant 19 | NM_001384491.1:c.2510= | NM_001384491.1:c.2510C>A |
| MAP4K4 transcript variant 52 | NM_001384567.1:c.2678= | NM_001384567.1:c.2678C>A |
| MAP4K4 transcript variant 23 | NM_001384495.1:c.2474= | NM_001384495.1:c.2474C>A |
| MAP4K4 transcript | NM_001384480.1:c.2474= | NM_001384480.1:c.2474C>A |
| MAP4K4 transcript variant 34 | NR_169281.1:n.2808= | NR_169281.1:n.2808C>A |
| MAP4K4 transcript | NM_001384545.1:c.1691= | NM_001384545.1:c.1691C>A |
| MAP4K4 transcript variant 53 | NM_001384572.1:c.2579= | NM_001384572.1:c.2579C>A |
| MAP4K4 transcript variant 39 | NM_001384552.1:c.2576= | NM_001384552.1:c.2576C>A |
| MAP4K4 transcript variant 49 | NM_001384562.1:c.2573= | NM_001384562.1:c.2573C>A |
| MAP4K4 transcript variant 18 | NM_001384490.1:c.2375= | NM_001384490.1:c.2375C>A |
| MAP4K4 transcript variant 43 | NM_001384556.1:c.2570= | NM_001384556.1:c.2570C>A |
| MAP4K4 transcript variant 22 | NM_001384494.1:c.2372= | NM_001384494.1:c.2372C>A |
| MAP4K4 transcript variant 54 | NM_001384579.1:c.2510= | NM_001384579.1:c.2510C>A |
| MAP4K4 transcript variant 41 | NM_001384554.1:c.2477= | NM_001384554.1:c.2477C>A |
| MAP4K4 transcript variant 37 | NM_001384550.1:c.2492= | NM_001384550.1:c.2492C>A |
| MAP4K4 transcript variant 45 | NM_001384558.1:c.2486= | NM_001384558.1:c.2486C>A |
| MAP4K4 transcript variant 8 | NM_001384478.1:c.2282= | NM_001384478.1:c.2282C>A |
| MAP4K4 transcript variant 10 | NM_001384482.1:c.2273= | NM_001384482.1:c.2273C>A |
| MAP4K4 transcript variant 36 | NM_001384549.1:c.2447= | NM_001384549.1:c.2447C>A |
| MAP4K4 transcript variant 46 | NM_001384559.1:c.2444= | NM_001384559.1:c.2444C>A |
| MAP4K4 transcript variant 38 | NM_001384551.1:c.2417= | NM_001384551.1:c.2417C>A |
| MAP4K4 transcript variant 44 | NM_001384557.1:c.2408= | NM_001384557.1:c.2408C>A |
| MAP4K4 transcript variant 47 | NM_001384560.1:c.2339= | NM_001384560.1:c.2339C>A |
| MAP4K4 transcript variant 48 | NM_001384561.1:c.2255= | NM_001384561.1:c.2255C>A |
| MAP4K4 transcript variant 26 | NR_169282.1:n.2361= | NR_169282.1:n.2361C>A |
| MAP4K4 transcript | NM_001384505.1:c.1244= | NM_001384505.1:c.1244C>A |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 1 | NP_004825.3:p.Ser760= | NP_004825.3:p.Ser760Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 2 | NP_663719.2:p.Ser876= | NP_663719.2:p.Ser876Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 3 | NP_663720.1:p.Ser815= | NP_663720.1:p.Ser815Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 4 | NP_001229488.1:p.Ser842= | NP_001229488.1:p.Ser842Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 5 | NP_001229489.1:p.Ser838= | NP_001229489.1:p.Ser838Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 55 | NP_001381931.1:p.Ser987= | NP_001381931.1:p.Ser987Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 25 | NP_001371426.1:p.Ser984= | NP_001371426.1:p.Ser984Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 20 | NP_001371421.1:p.Ser955= | NP_001371421.1:p.Ser955Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 21 | NP_001371422.1:p.Ser933= | NP_001371422.1:p.Ser933Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 7 | NP_001371406.1:p.Ser931= | NP_001371406.1:p.Ser931Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 27 | NP_001371435.1:p.Ser923= | NP_001371435.1:p.Ser923Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 9 | NP_001371410.1:p.Ser907= | NP_001371410.1:p.Ser907Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 14 | NP_001371415.1:p.Ser910= | NP_001371415.1:p.Ser910Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 16 | NP_001371417.1:p.Ser909= | NP_001371417.1:p.Ser909Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 35 | NP_001371477.1:p.Ser904= | NP_001371477.1:p.Ser904Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 15 | NP_001371416.1:p.Ser899= | NP_001371416.1:p.Ser899Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 30 | NP_001371438.1:p.Ser898= | NP_001371438.1:p.Ser898Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 32 | NP_001371472.1:p.Ser892= | NP_001371472.1:p.Ser892Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 31 | NP_001371449.1:p.Ser889= | NP_001371449.1:p.Ser889Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 51 | NP_001371493.1:p.Ser944= | NP_001371493.1:p.Ser944Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 13 | NP_001371414.1:p.Ser869= | NP_001371414.1:p.Ser869Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 12 | NP_001371413.1:p.Ser869= | NP_001371413.1:p.Ser869Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 6 | NP_001371405.1:p.Ser868= | NP_001371405.1:p.Ser868Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 29 | NP_001371437.1:p.Ser867= | NP_001371437.1:p.Ser867Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 24 | NP_001371425.1:p.Ser853= | NP_001371425.1:p.Ser853Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 42 | NP_001371484.1:p.Ser924= | NP_001371484.1:p.Ser924Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 40 | NP_001371482.1:p.Ser922= | NP_001371482.1:p.Ser922Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 50 | NP_001371492.1:p.Ser921= | NP_001371492.1:p.Ser921Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 11 | NP_001371412.1:p.Ser852= | NP_001371412.1:p.Ser852Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 28 | NP_001371436.1:p.Ser846= | NP_001371436.1:p.Ser846Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 19 | NP_001371420.1:p.Ser837= | NP_001371420.1:p.Ser837Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 52 | NP_001371496.1:p.Ser893= | NP_001371496.1:p.Ser893Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 23 | NP_001371424.1:p.Ser825= | NP_001371424.1:p.Ser825Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 53 | NP_001371501.1:p.Ser860= | NP_001371501.1:p.Ser860Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 39 | NP_001371481.1:p.Ser859= | NP_001371481.1:p.Ser859Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 49 | NP_001371491.1:p.Ser858= | NP_001371491.1:p.Ser858Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 18 | NP_001371419.1:p.Ser792= | NP_001371419.1:p.Ser792Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 43 | NP_001371485.1:p.Ser857= | NP_001371485.1:p.Ser857Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 22 | NP_001371423.1:p.Ser791= | NP_001371423.1:p.Ser791Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 54 | NP_001371508.1:p.Ser837= | NP_001371508.1:p.Ser837Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 41 | NP_001371483.1:p.Ser826= | NP_001371483.1:p.Ser826Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 37 | NP_001371479.1:p.Ser831= | NP_001371479.1:p.Ser831Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 45 | NP_001371487.1:p.Ser829= | NP_001371487.1:p.Ser829Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 8 | NP_001371407.1:p.Ser761= | NP_001371407.1:p.Ser761Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 10 | NP_001371411.1:p.Ser758= | NP_001371411.1:p.Ser758Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 36 | NP_001371478.1:p.Ser816= | NP_001371478.1:p.Ser816Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 46 | NP_001371488.1:p.Ser815= | NP_001371488.1:p.Ser815Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 38 | NP_001371480.1:p.Ser806= | NP_001371480.1:p.Ser806Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 44 | NP_001371486.1:p.Ser803= | NP_001371486.1:p.Ser803Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 47 | NP_001371489.1:p.Ser780= | NP_001371489.1:p.Ser780Tyr |
| mitogen-activated protein kinase kinase kinase kinase 4 isoform 48 | NP_001371490.1:p.Ser752= | NP_001371490.1:p.Ser752Tyr |
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#.
2 SubSNP,
2 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2746746609 | Nov 08, 2017 (151) |
| 2 | GNOMAD | ss2777273562 | Nov 08, 2017 (151) |
| 3 | gnomAD - Genomes | NC_000002.12 - 101873654 | Apr 26, 2021 (155) |
| 4 | ALFA | NC_000002.12 - 101873654 | Apr 26, 2021 (155) |
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).
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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 rs1485204400
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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.
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.