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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.

rs1473167400

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:79573693 (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=0.000008 (2/264690, TOPMED)
T=0.000014 (2/140200, GnomAD)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TLE4 : 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
TopMed Global Study-wide 264690 C=0.999992 T=0.000008
gnomAD - Genomes Global Study-wide 140200 C=0.999986 T=0.000014
gnomAD - Genomes European Sub 75930 C=0.99997 T=0.00003
gnomAD - Genomes African Sub 42022 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13640 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=1.0000 T=0.0000
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 9 NC_000009.12:g.79573693C>T
GRCh37.p13 chr 9 NC_000009.11:g.82188608C>T
Gene: TLE4, TLE family member 4, transcriptional corepressor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TLE4 transcript variant 5 NM_001282760.2:c.-409= N/A 5 Prime UTR Variant
TLE4 transcript variant 16 NM_001351560.2:c.44C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 15 NP_001338489.1:p.Pro15Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 14 NM_001351556.2:c.44C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 13 NP_001338485.1:p.Pro15Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 11 NM_001351547.2:c.44C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 10 NP_001338476.1:p.Pro15Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 10 NM_001351546.2:c.44C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 9 NP_001338475.1:p.Pro15Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 9 NM_001351543.2:c.44C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 8 NP_001338472.1:p.Pro15Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 18 NM_001351563.2:c.44C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 17 NP_001338492.1:p.Pro15Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 3 NM_007005.6:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 3 NP_008936.2:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 15 NM_001351558.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 14 NP_001338487.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 2 NM_001282749.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 2 NP_001269678.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 7 NM_001351541.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 6 NP_001338470.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 8 NM_001351542.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 7 NP_001338471.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 1 NM_001282748.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 1 NP_001269677.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 17 NM_001351562.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 16 NP_001338491.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 19 NM_001351564.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 18 NP_001338493.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 12 NM_001351550.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 11 NP_001338479.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 4 NM_001282753.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 4 NP_001269682.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 13 NM_001351552.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform 12 NP_001338481.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant 6 NR_104239.2:n.876C>T N/A Non Coding Transcript Variant
TLE4 transcript variant X32 XM_011518972.4:c. N/A Genic Upstream Transcript Variant
TLE4 transcript variant X1 XM_011518952.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X1 XP_011517254.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X2 XM_011518953.3:c.44C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X2 XP_011517255.1:p.Pro15Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X3 XM_011518954.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X3 XP_011517256.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X4 XM_011518955.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X4 XP_011517257.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X5 XM_006717264.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X5 XP_006717327.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X6 XM_011518956.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X6 XP_011517258.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X7 XM_011518957.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X7 XP_011517259.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X8 XM_011518958.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X8 XP_011517260.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X9 XM_011518959.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X9 XP_011517261.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X10 XM_011518960.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X10 XP_011517262.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X11 XM_017015067.2:c.44C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X11 XP_016870556.1:p.Pro15Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X12 XM_017015068.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X12 XP_016870557.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X13 XM_006717268.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X13 XP_006717331.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X14 XM_011518961.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X14 XP_011517263.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X15 XM_011518962.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X15 XP_011517264.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X16 XM_011518963.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X16 XP_011517265.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X17 XM_011518964.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X17 XP_011517266.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X18 XM_011518965.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X18 XP_011517267.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X19 XM_011518966.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X19 XP_011517268.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X20 XM_011518967.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X20 XP_011517269.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X21 XM_047423819.1:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X21 XP_047279775.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X22 XM_011518968.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X22 XP_011517270.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X23 XM_011518969.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X23 XP_011517271.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X24 XM_017015074.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X24 XP_016870563.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X25 XM_047423820.1:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X25 XP_047279776.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X26 XM_047423821.1:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X26 XP_047279777.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X27 XM_047423822.1:c.44C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X27 XP_047279778.1:p.Pro15Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X28 XM_047423823.1:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X28 XP_047279779.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X29 XM_017015083.2:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X29 XP_016870572.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X30 XM_011518970.4:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X30 XP_011517272.1:p.Pro17Leu P (Pro) > L (Leu) Missense Variant
TLE4 transcript variant X31 XM_047423824.1:c.50C>T P [CCG] > L [CTG] Coding Sequence Variant
transducin-like enhancer protein 4 isoform X31 XP_047279780.1:p.Pro17Leu P (Pro) > L (Leu) 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 C= T
GRCh38.p14 chr 9 NC_000009.12:g.79573693= NC_000009.12:g.79573693C>T
GRCh37.p13 chr 9 NC_000009.11:g.82188608= NC_000009.11:g.82188608C>T
TLE4 transcript variant 3 NM_007005.6:c.50= NM_007005.6:c.50C>T
TLE4 transcript variant 3 NM_007005.5:c.50= NM_007005.5:c.50C>T
TLE4 transcript variant 3 NM_007005.4:c.50= NM_007005.4:c.50C>T
TLE4 transcript NM_007005.3:c.50= NM_007005.3:c.50C>T
TLE4 transcript variant X30 XM_011518970.4:c.50= XM_011518970.4:c.50C>T
TLE4 transcript variant X29 XM_011518970.3:c.50= XM_011518970.3:c.50C>T
TLE4 transcript variant X42 XM_011518970.2:c.50= XM_011518970.2:c.50C>T
TLE4 transcript variant X22 XM_011518970.1:c.50= XM_011518970.1:c.50C>T
TLE4 transcript variant X2 XM_011518953.3:c.44= XM_011518953.3:c.44C>T
TLE4 transcript variant X2 XM_011518953.2:c.44= XM_011518953.2:c.44C>T
TLE4 transcript variant X2 XM_011518953.1:c.44= XM_011518953.1:c.44C>T
TLE4 transcript variant X1 XM_011518952.2:c.50= XM_011518952.2:c.50C>T
TLE4 transcript variant X1 XM_011518952.1:c.50= XM_011518952.1:c.50C>T
TLE4 transcript variant X3 XM_011518954.2:c.50= XM_011518954.2:c.50C>T
TLE4 transcript variant X3 XM_011518954.1:c.50= XM_011518954.1:c.50C>T
TLE4 transcript variant X4 XM_011518955.2:c.50= XM_011518955.2:c.50C>T
TLE4 transcript variant X4 XM_011518955.1:c.50= XM_011518955.1:c.50C>T
TLE4 transcript variant X5 XM_006717264.2:c.50= XM_006717264.2:c.50C>T
TLE4 transcript variant X5 XM_006717264.1:c.50= XM_006717264.1:c.50C>T
TLE4 transcript variant X6 XM_011518956.2:c.50= XM_011518956.2:c.50C>T
TLE4 transcript variant X6 XM_011518956.1:c.50= XM_011518956.1:c.50C>T
TLE4 transcript variant X7 XM_011518957.2:c.50= XM_011518957.2:c.50C>T
TLE4 transcript variant X7 XM_011518957.1:c.50= XM_011518957.1:c.50C>T
TLE4 transcript variant X8 XM_011518958.2:c.50= XM_011518958.2:c.50C>T
TLE4 transcript variant X8 XM_011518958.1:c.50= XM_011518958.1:c.50C>T
TLE4 transcript variant X9 XM_011518959.2:c.50= XM_011518959.2:c.50C>T
TLE4 transcript variant X9 XM_011518959.1:c.50= XM_011518959.1:c.50C>T
TLE4 transcript variant X10 XM_011518960.2:c.50= XM_011518960.2:c.50C>T
TLE4 transcript variant X10 XM_011518960.1:c.50= XM_011518960.1:c.50C>T
TLE4 transcript variant 6 NR_104239.2:n.876= NR_104239.2:n.876C>T
TLE4 transcript variant 6 NR_104239.1:n.1068= NR_104239.1:n.1068C>T
TLE4 transcript variant X12 XM_017015068.2:c.50= XM_017015068.2:c.50C>T
TLE4 transcript variant X12 XM_017015068.1:c.50= XM_017015068.1:c.50C>T
TLE4 transcript variant X13 XM_006717268.2:c.50= XM_006717268.2:c.50C>T
TLE4 transcript variant X13 XM_006717268.1:c.50= XM_006717268.1:c.50C>T
TLE4 transcript variant X14 XM_011518961.2:c.50= XM_011518961.2:c.50C>T
TLE4 transcript variant X14 XM_011518961.1:c.50= XM_011518961.1:c.50C>T
TLE4 transcript variant X15 XM_011518962.2:c.50= XM_011518962.2:c.50C>T
TLE4 transcript variant X15 XM_011518962.1:c.50= XM_011518962.1:c.50C>T
TLE4 transcript variant X16 XM_011518963.2:c.50= XM_011518963.2:c.50C>T
TLE4 transcript variant X16 XM_011518963.1:c.50= XM_011518963.1:c.50C>T
TLE4 transcript variant X17 XM_011518964.2:c.50= XM_011518964.2:c.50C>T
TLE4 transcript variant X17 XM_011518964.1:c.50= XM_011518964.1:c.50C>T
TLE4 transcript variant 1 NM_001282748.2:c.50= NM_001282748.2:c.50C>T
TLE4 transcript variant 1 NM_001282748.1:c.50= NM_001282748.1:c.50C>T
TLE4 transcript variant 5 NM_001282760.2:c.-409= NM_001282760.2:c.-409C>T
TLE4 transcript variant 5 NM_001282760.1:c.-409= NM_001282760.1:c.-409C>T
TLE4 transcript variant X18 XM_011518965.2:c.50= XM_011518965.2:c.50C>T
TLE4 transcript variant X20 XM_011518965.1:c.50= XM_011518965.1:c.50C>T
TLE4 transcript variant X19 XM_011518966.2:c.50= XM_011518966.2:c.50C>T
TLE4 transcript variant X21 XM_011518966.1:c.50= XM_011518966.1:c.50C>T
TLE4 transcript variant X20 XM_011518967.2:c.50= XM_011518967.2:c.50C>T
TLE4 transcript variant X22 XM_011518967.1:c.50= XM_011518967.1:c.50C>T
TLE4 transcript variant 7 NM_001351541.2:c.50= NM_001351541.2:c.50C>T
TLE4 transcript variant 7 NM_001351541.1:c.50= NM_001351541.1:c.50C>T
TLE4 transcript variant X22 XM_011518968.2:c.50= XM_011518968.2:c.50C>T
TLE4 transcript variant X23 XM_011518968.1:c.50= XM_011518968.1:c.50C>T
TLE4 transcript variant 8 NM_001351542.2:c.50= NM_001351542.2:c.50C>T
TLE4 transcript variant 8 NM_001351542.1:c.50= NM_001351542.1:c.50C>T
TLE4 transcript variant X23 XM_011518969.2:c.50= XM_011518969.2:c.50C>T
TLE4 transcript variant X24 XM_011518969.1:c.50= XM_011518969.1:c.50C>T
TLE4 transcript variant X24 XM_017015074.2:c.50= XM_017015074.2:c.50C>T
TLE4 transcript variant X25 XM_017015074.1:c.50= XM_017015074.1:c.50C>T
TLE4 transcript variant 12 NM_001351550.2:c.50= NM_001351550.2:c.50C>T
TLE4 transcript variant 12 NM_001351550.1:c.50= NM_001351550.1:c.50C>T
TLE4 transcript variant 13 NM_001351552.2:c.50= NM_001351552.2:c.50C>T
TLE4 transcript variant 13 NM_001351552.1:c.50= NM_001351552.1:c.50C>T
TLE4 transcript variant 15 NM_001351558.2:c.50= NM_001351558.2:c.50C>T
TLE4 transcript variant 15 NM_001351558.1:c.50= NM_001351558.1:c.50C>T
TLE4 transcript variant 2 NM_001282749.2:c.50= NM_001282749.2:c.50C>T
TLE4 transcript variant 2 NM_001282749.1:c.50= NM_001282749.1:c.50C>T
TLE4 transcript variant X29 XM_017015083.2:c.50= XM_017015083.2:c.50C>T
TLE4 transcript variant X28 XM_017015083.1:c.50= XM_017015083.1:c.50C>T
TLE4 transcript variant 4 NM_001282753.2:c.50= NM_001282753.2:c.50C>T
TLE4 transcript variant 4 NM_001282753.1:c.50= NM_001282753.1:c.50C>T
TLE4 transcript variant 17 NM_001351562.2:c.50= NM_001351562.2:c.50C>T
TLE4 transcript variant 17 NM_001351562.1:c.50= NM_001351562.1:c.50C>T
TLE4 transcript variant 19 NM_001351564.2:c.50= NM_001351564.2:c.50C>T
TLE4 transcript variant 19 NM_001351564.1:c.50= NM_001351564.1:c.50C>T
TLE4 transcript variant X11 XM_017015067.2:c.44= XM_017015067.2:c.44C>T
TLE4 transcript variant X11 XM_017015067.1:c.44= XM_017015067.1:c.44C>T
TLE4 transcript variant 9 NM_001351543.2:c.44= NM_001351543.2:c.44C>T
TLE4 transcript variant 9 NM_001351543.1:c.44= NM_001351543.1:c.44C>T
TLE4 transcript variant 10 NM_001351546.2:c.44= NM_001351546.2:c.44C>T
TLE4 transcript variant 10 NM_001351546.1:c.44= NM_001351546.1:c.44C>T
TLE4 transcript variant 11 NM_001351547.2:c.44= NM_001351547.2:c.44C>T
TLE4 transcript variant 11 NM_001351547.1:c.44= NM_001351547.1:c.44C>T
TLE4 transcript variant 14 NM_001351556.2:c.44= NM_001351556.2:c.44C>T
TLE4 transcript variant 14 NM_001351556.1:c.44= NM_001351556.1:c.44C>T
TLE4 transcript variant 16 NM_001351560.2:c.44= NM_001351560.2:c.44C>T
TLE4 transcript variant 16 NM_001351560.1:c.44= NM_001351560.1:c.44C>T
TLE4 transcript variant 18 NM_001351563.2:c.44= NM_001351563.2:c.44C>T
TLE4 transcript variant 18 NM_001351563.1:c.44= NM_001351563.1:c.44C>T
TLE4 transcript variant X21 XM_047423819.1:c.50= XM_047423819.1:c.50C>T
TLE4 transcript variant X25 XM_047423820.1:c.50= XM_047423820.1:c.50C>T
TLE4 transcript variant X26 XM_047423821.1:c.50= XM_047423821.1:c.50C>T
TLE4 transcript variant X28 XM_047423823.1:c.50= XM_047423823.1:c.50C>T
TLE4 transcript variant X31 XM_047423824.1:c.50= XM_047423824.1:c.50C>T
TLE4 transcript variant X27 XM_047423822.1:c.44= XM_047423822.1:c.44C>T
transducin-like enhancer protein 4 isoform 3 NP_008936.2:p.Pro17= NP_008936.2:p.Pro17Leu
transducin-like enhancer protein 4 isoform X30 XP_011517272.1:p.Pro17= XP_011517272.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X2 XP_011517255.1:p.Pro15= XP_011517255.1:p.Pro15Leu
transducin-like enhancer protein 4 isoform X1 XP_011517254.1:p.Pro17= XP_011517254.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X3 XP_011517256.1:p.Pro17= XP_011517256.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X4 XP_011517257.1:p.Pro17= XP_011517257.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X5 XP_006717327.1:p.Pro17= XP_006717327.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X6 XP_011517258.1:p.Pro17= XP_011517258.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X7 XP_011517259.1:p.Pro17= XP_011517259.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X8 XP_011517260.1:p.Pro17= XP_011517260.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X9 XP_011517261.1:p.Pro17= XP_011517261.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X10 XP_011517262.1:p.Pro17= XP_011517262.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X12 XP_016870557.1:p.Pro17= XP_016870557.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X13 XP_006717331.1:p.Pro17= XP_006717331.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X14 XP_011517263.1:p.Pro17= XP_011517263.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X15 XP_011517264.1:p.Pro17= XP_011517264.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X16 XP_011517265.1:p.Pro17= XP_011517265.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X17 XP_011517266.1:p.Pro17= XP_011517266.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform 1 NP_001269677.1:p.Pro17= NP_001269677.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X18 XP_011517267.1:p.Pro17= XP_011517267.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X19 XP_011517268.1:p.Pro17= XP_011517268.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X20 XP_011517269.1:p.Pro17= XP_011517269.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform 6 NP_001338470.1:p.Pro17= NP_001338470.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X22 XP_011517270.1:p.Pro17= XP_011517270.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform 7 NP_001338471.1:p.Pro17= NP_001338471.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X23 XP_011517271.1:p.Pro17= XP_011517271.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X24 XP_016870563.1:p.Pro17= XP_016870563.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform 11 NP_001338479.1:p.Pro17= NP_001338479.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform 12 NP_001338481.1:p.Pro17= NP_001338481.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform 14 NP_001338487.1:p.Pro17= NP_001338487.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform 2 NP_001269678.1:p.Pro17= NP_001269678.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X29 XP_016870572.1:p.Pro17= XP_016870572.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform 4 NP_001269682.1:p.Pro17= NP_001269682.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform 16 NP_001338491.1:p.Pro17= NP_001338491.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform 18 NP_001338493.1:p.Pro17= NP_001338493.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X11 XP_016870556.1:p.Pro15= XP_016870556.1:p.Pro15Leu
transducin-like enhancer protein 4 isoform 8 NP_001338472.1:p.Pro15= NP_001338472.1:p.Pro15Leu
transducin-like enhancer protein 4 isoform 9 NP_001338475.1:p.Pro15= NP_001338475.1:p.Pro15Leu
transducin-like enhancer protein 4 isoform 10 NP_001338476.1:p.Pro15= NP_001338476.1:p.Pro15Leu
transducin-like enhancer protein 4 isoform 13 NP_001338485.1:p.Pro15= NP_001338485.1:p.Pro15Leu
transducin-like enhancer protein 4 isoform 15 NP_001338489.1:p.Pro15= NP_001338489.1:p.Pro15Leu
transducin-like enhancer protein 4 isoform 17 NP_001338492.1:p.Pro15= NP_001338492.1:p.Pro15Leu
transducin-like enhancer protein 4 isoform X21 XP_047279775.1:p.Pro17= XP_047279775.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X25 XP_047279776.1:p.Pro17= XP_047279776.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X26 XP_047279777.1:p.Pro17= XP_047279777.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X28 XP_047279779.1:p.Pro17= XP_047279779.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X31 XP_047279780.1:p.Pro17= XP_047279780.1:p.Pro17Leu
transducin-like enhancer protein 4 isoform X27 XP_047279778.1:p.Pro15= XP_047279778.1:p.Pro15Leu
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#.

3 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2748205252 Nov 08, 2017 (151)
2 GNOMAD ss2879685486 Nov 08, 2017 (151)
3 TOPMED ss4824674475 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000009.12 - 79573693 Apr 26, 2021 (155)
5 TopMed NC_000009.12 - 79573693 Apr 26, 2021 (155)
6 ALFA NC_000009.12 - 79573693 Apr 26, 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
ss2748205252, ss2879685486 NC_000009.11:82188607:C:T NC_000009.12:79573692:C:T (self)
328664402, 662052036, 2892649445, ss4824674475 NC_000009.12:79573692:C:T NC_000009.12:79573692: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 rs1473167400

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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